Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations
Identifieur interne : 003B63 ( Ncbi/Merge ); précédent : 003B62; suivant : 003B64Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations
Auteurs : Yi Wang ; Cindy S. Ma ; Yun Ling ; Aziz Bousfiha ; Yildiz Camcioglu ; Serge Jacquot ; Kathryn Payne ; Elena Crestani ; Romain Roncagalli ; Aziz Belkadi ; Gaspard Kerner ; Lazaro Lorenzo ; Caroline Deswarte ; Maya Chrabieh ; Etienne Patin ; Quentin B. Vincent ; Ingrid Müller-Fleckenstein ; Bernhard Fleckenstein ; Fatima Ailal ; Lluis Quintana-Murci ; Sylvie Fraitag ; Marie-Alexandra Alyanakian ; Marianne Leruez-Ville ; Capucine Picard ; Anne Puel ; Jacinta Bustamante ; Stéphanie Boisson-Dupuis ; Marie Malissen ; Bernard Malissen ; Laurent Abel ; Alain Hovnanian ; Luigi D. Notarangelo ; Emmanuelle Jouanguy ; Stuart G. Tangye ; Vivien Béziat ; Jean-Laurent CasanovaSource :
- The Journal of Experimental Medicine [ 0022-1007 ] ; 2016.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Allèles, Antigène CD28 (métabolisme), Cellules HEK293, Cellules Th17 (immunologie), Différenciation cellulaire (génétique), Dimérisation, Enfant, Enfant d'âge préscolaire, Facteur de transcription NF-kappa B (métabolisme), Femelle, Humains, Immunophénotypage, Jeune adulte, Leucocytes (anatomopathologie), Lymphocytes B (immunologie), Lymphocytes T (immunologie), Lymphocytes T CD4+ (immunologie), Lymphocytes auxiliaires Th2 (immunologie), Mutation (génétique), Mâle, Mémoire immunologique, Pedigree, Phénotype, Prolifération cellulaire (génétique), Protéines des microfilaments (génétique), Récepteurs pour l'antigène des lymphocytes B, Survie cellulaire (génétique), Séquence nucléotidique, Transduction du signal.
- MESH :
- anatomopathologie : Leucocytes.
- génétique : Différenciation cellulaire, Mutation, Prolifération cellulaire, Protéines des microfilaments, Survie cellulaire.
- immunologie : Cellules Th17, Lymphocytes B, Lymphocytes T, Lymphocytes T CD4+, Lymphocytes auxiliaires Th2.
- métabolisme : Antigène CD28, Facteur de transcription NF-kappa B.
- Adolescent, Adulte, Allèles, Cellules HEK293, Dimérisation, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Immunophénotypage, Jeune adulte, Mâle, Mémoire immunologique, Pedigree, Phénotype, Récepteurs pour l'antigène des lymphocytes B, Séquence nucléotidique, Transduction du signal.
English descriptors
- KwdEn :
- Adolescent, Adult, Alleles, Antigens, CD28 (metabolism), B-Lymphocytes (immunology), Base Sequence, CD4-Positive T-Lymphocytes (immunology), Cell Differentiation (genetics), Cell Proliferation (genetics), Cell Survival (genetics), Child, Child, Preschool, Dimerization, Female, HEK293 Cells, Humans, Immunologic Memory, Immunophenotyping, Leukocytes (pathology), Male, Microfilament Proteins (genetics), Mutation (genetics), NF-kappa B (metabolism), Pedigree, Phenotype, Receptors, Antigen, B-Cell, Signal Transduction, T-Lymphocytes (immunology), Th17 Cells (immunology), Th2 Cells (immunology), Young Adult.
- MESH :
- chemical , genetics : Microfilament Proteins.
- chemical , metabolism : Antigens, CD28, NF-kappa B.
- genetics : Cell Differentiation, Cell Proliferation, Cell Survival, Mutation.
- immunology : B-Lymphocytes, CD4-Positive T-Lymphocytes, T-Lymphocytes, Th17 Cells, Th2 Cells.
- pathology : Leukocytes.
- Adolescent, Adult, Alleles, Base Sequence, Child, Child, Preschool, Dimerization, Female, HEK293 Cells, Humans, Immunologic Memory, Immunophenotyping, Male, Pedigree, Phenotype, Receptors, Antigen, B-Cell, Signal Transduction, Young Adult.
Abstract
In two complementary papers, Casanova, Malissen, and collaborators report the discovery of human RLTPR deficiency, the first primary immunodeficiency of the human CD28 pathway in T cells. Together, the two studies highlight the important and largely (but not completely) overlapping roles of RLTPR in T and B cells of humans and mice.
Url:
DOI: 10.1084/jem.20160576
PubMed: 27647349
PubMed Central: 5068239
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Ma</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>St. Vincent's Clinical School, University of New South Wales, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Ling, Yun" sort="Ling, Yun" uniqKey="Ling Y" first="Yun" last="Ling">Yun Ling</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="aff6"><institution>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Camcioglu, Yildiz" sort="Camcioglu, Yildiz" uniqKey="Camcioglu Y" first="Yildiz" last="Camcioglu">Yildiz Camcioglu</name><affiliation><nlm:aff id="aff7"><institution>Division of Infectious Diseases, Clinical Immunology, and Allergy, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University, 34452 Istanbul, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Jacquot, Serge" sort="Jacquot, Serge" uniqKey="Jacquot S" first="Serge" last="Jacquot">Serge Jacquot</name><affiliation><nlm:aff id="aff8"><institution>Immunology Unit, Rouen University Hospital, 76031 Rouen, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Institut National de la Santé et de la Recherche Médicale U905, Institute for Research and Innovation in Biomedicine, Rouen Normandy University, 76183 Rouen, France</institution></nlm:aff></affiliation></author><author><name sortKey="Payne, Kathryn" sort="Payne, Kathryn" uniqKey="Payne K" first="Kathryn" last="Payne">Kathryn Payne</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Crestani, Elena" sort="Crestani, Elena" uniqKey="Crestani E" first="Elena" last="Crestani">Elena Crestani</name><affiliation><nlm:aff id="aff10"><institution>Division of Immunology, Boston Children's Hospital, Boston, MA 02115</institution></nlm:aff></affiliation></author><author><name sortKey="Roncagalli, Romain" sort="Roncagalli, Romain" uniqKey="Roncagalli R" first="Romain" last="Roncagalli">Romain Roncagalli</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Kerner, Gaspard" sort="Kerner, Gaspard" uniqKey="Kerner G" first="Gaspard" last="Kerner">Gaspard Kerner</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Deswarte, Caroline" sort="Deswarte, Caroline" uniqKey="Deswarte C" first="Caroline" last="Deswarte">Caroline Deswarte</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Chrabieh, Maya" sort="Chrabieh, Maya" uniqKey="Chrabieh M" first="Maya" last="Chrabieh">Maya Chrabieh</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Patin, Etienne" sort="Patin, Etienne" uniqKey="Patin E" first="Etienne" last="Patin">Etienne Patin</name><affiliation><nlm:aff id="aff13"><institution>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>Centre National de la Recherche Scientifique URA 3012, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Vincent, Quentin B" sort="Vincent, Quentin B" uniqKey="Vincent Q" first="Quentin B." last="Vincent">Quentin B. Vincent</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Muller Fleckenstein, Ingrid" sort="Muller Fleckenstein, Ingrid" uniqKey="Muller Fleckenstein I" first="Ingrid" last="Müller-Fleckenstein">Ingrid Müller-Fleckenstein</name><affiliation><nlm:aff id="aff15"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Fleckenstein, Bernhard" sort="Fleckenstein, Bernhard" uniqKey="Fleckenstein B" first="Bernhard" last="Fleckenstein">Bernhard Fleckenstein</name><affiliation><nlm:aff id="aff15"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><affiliation><nlm:aff id="aff6"><institution>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis Quintana-Murci</name><affiliation><nlm:aff id="aff13"><institution>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>Centre National de la Recherche Scientifique URA 3012, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Fraitag, Sylvie" sort="Fraitag, Sylvie" uniqKey="Fraitag S" first="Sylvie" last="Fraitag">Sylvie Fraitag</name><affiliation><nlm:aff id="aff16"><institution>Department of Pathology, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Alyanakian, Marie Alexandra" sort="Alyanakian, Marie Alexandra" uniqKey="Alyanakian M" first="Marie-Alexandra" last="Alyanakian">Marie-Alexandra Alyanakian</name><affiliation><nlm:aff id="aff17"><institution>Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Leruez Ville, Marianne" sort="Leruez Ville, Marianne" uniqKey="Leruez Ville M" first="Marianne" last="Leruez-Ville">Marianne Leruez-Ville</name><affiliation><nlm:aff id="aff18"><institution>Virology Laboratory, Paris Descartes University, Sorbonne Paris Cité-EA 36–20, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Malissen, Marie" sort="Malissen, Marie" uniqKey="Malissen M" first="Marie" last="Malissen">Marie Malissen</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Malissen, Bernard" sort="Malissen, Bernard" uniqKey="Malissen B" first="Bernard" last="Malissen">Bernard Malissen</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Hovnanian, Alain" sort="Hovnanian, Alain" uniqKey="Hovnanian A" first="Alain" last="Hovnanian">Alain Hovnanian</name><affiliation><nlm:aff id="aff2"><institution>Laboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D." last="Notarangelo">Luigi D. Notarangelo</name><affiliation><nlm:aff id="aff10"><institution>Division of Immunology, Boston Children's Hospital, Boston, MA 02115</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff11"><institution>Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138</institution></nlm:aff></affiliation></author><author><name sortKey="Jouanguy, Emmanuelle" sort="Jouanguy, Emmanuelle" uniqKey="Jouanguy E" first="Emmanuelle" last="Jouanguy">Emmanuelle Jouanguy</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>St. Vincent's Clinical School, University of New South Wales, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Beziat, Vivien" sort="Beziat, Vivien" uniqKey="Beziat V" first="Vivien" last="Béziat">Vivien Béziat</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff19"><institution>Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27647349</idno><idno type="pmc">5068239</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068239</idno><idno type="RBID">PMC:5068239</idno><idno type="doi">10.1084/jem.20160576</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">002670</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002670</idno><idno type="wicri:Area/Pmc/Curation">002520</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002520</idno><idno type="wicri:Area/Pmc/Checkpoint">000A01</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000A01</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">001775</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001775</idno><idno type="wicri:Area/PubMed/Curation">001752</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001752</idno><idno type="wicri:Area/PubMed/Checkpoint">001752</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001752</idno><idno type="wicri:Area/Ncbi/Merge">003B63</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Dual T cell– and B cell–intrinsic deficiency in humans with biallelic <italic>RLTPR</italic> mutations</title><author><name sortKey="Wang, Yi" sort="Wang, Yi" uniqKey="Wang Y" first="Yi" last="Wang">Yi Wang</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S." last="Ma">Cindy S. Ma</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>St. Vincent's Clinical School, University of New South Wales, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Ling, Yun" sort="Ling, Yun" uniqKey="Ling Y" first="Yun" last="Ling">Yun Ling</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="aff6"><institution>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Camcioglu, Yildiz" sort="Camcioglu, Yildiz" uniqKey="Camcioglu Y" first="Yildiz" last="Camcioglu">Yildiz Camcioglu</name><affiliation><nlm:aff id="aff7"><institution>Division of Infectious Diseases, Clinical Immunology, and Allergy, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University, 34452 Istanbul, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Jacquot, Serge" sort="Jacquot, Serge" uniqKey="Jacquot S" first="Serge" last="Jacquot">Serge Jacquot</name><affiliation><nlm:aff id="aff8"><institution>Immunology Unit, Rouen University Hospital, 76031 Rouen, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Institut National de la Santé et de la Recherche Médicale U905, Institute for Research and Innovation in Biomedicine, Rouen Normandy University, 76183 Rouen, France</institution></nlm:aff></affiliation></author><author><name sortKey="Payne, Kathryn" sort="Payne, Kathryn" uniqKey="Payne K" first="Kathryn" last="Payne">Kathryn Payne</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Crestani, Elena" sort="Crestani, Elena" uniqKey="Crestani E" first="Elena" last="Crestani">Elena Crestani</name><affiliation><nlm:aff id="aff10"><institution>Division of Immunology, Boston Children's Hospital, Boston, MA 02115</institution></nlm:aff></affiliation></author><author><name sortKey="Roncagalli, Romain" sort="Roncagalli, Romain" uniqKey="Roncagalli R" first="Romain" last="Roncagalli">Romain Roncagalli</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Kerner, Gaspard" sort="Kerner, Gaspard" uniqKey="Kerner G" first="Gaspard" last="Kerner">Gaspard Kerner</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Deswarte, Caroline" sort="Deswarte, Caroline" uniqKey="Deswarte C" first="Caroline" last="Deswarte">Caroline Deswarte</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Chrabieh, Maya" sort="Chrabieh, Maya" uniqKey="Chrabieh M" first="Maya" last="Chrabieh">Maya Chrabieh</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Patin, Etienne" sort="Patin, Etienne" uniqKey="Patin E" first="Etienne" last="Patin">Etienne Patin</name><affiliation><nlm:aff id="aff13"><institution>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>Centre National de la Recherche Scientifique URA 3012, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Vincent, Quentin B" sort="Vincent, Quentin B" uniqKey="Vincent Q" first="Quentin B." last="Vincent">Quentin B. Vincent</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Muller Fleckenstein, Ingrid" sort="Muller Fleckenstein, Ingrid" uniqKey="Muller Fleckenstein I" first="Ingrid" last="Müller-Fleckenstein">Ingrid Müller-Fleckenstein</name><affiliation><nlm:aff id="aff15"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Fleckenstein, Bernhard" sort="Fleckenstein, Bernhard" uniqKey="Fleckenstein B" first="Bernhard" last="Fleckenstein">Bernhard Fleckenstein</name><affiliation><nlm:aff id="aff15"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><affiliation><nlm:aff id="aff6"><institution>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis Quintana-Murci</name><affiliation><nlm:aff id="aff13"><institution>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>Centre National de la Recherche Scientifique URA 3012, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Fraitag, Sylvie" sort="Fraitag, Sylvie" uniqKey="Fraitag S" first="Sylvie" last="Fraitag">Sylvie Fraitag</name><affiliation><nlm:aff id="aff16"><institution>Department of Pathology, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Alyanakian, Marie Alexandra" sort="Alyanakian, Marie Alexandra" uniqKey="Alyanakian M" first="Marie-Alexandra" last="Alyanakian">Marie-Alexandra Alyanakian</name><affiliation><nlm:aff id="aff17"><institution>Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Leruez Ville, Marianne" sort="Leruez Ville, Marianne" uniqKey="Leruez Ville M" first="Marianne" last="Leruez-Ville">Marianne Leruez-Ville</name><affiliation><nlm:aff id="aff18"><institution>Virology Laboratory, Paris Descartes University, Sorbonne Paris Cité-EA 36–20, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Malissen, Marie" sort="Malissen, Marie" uniqKey="Malissen M" first="Marie" last="Malissen">Marie Malissen</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Malissen, Bernard" sort="Malissen, Bernard" uniqKey="Malissen B" first="Bernard" last="Malissen">Bernard Malissen</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Hovnanian, Alain" sort="Hovnanian, Alain" uniqKey="Hovnanian A" first="Alain" last="Hovnanian">Alain Hovnanian</name><affiliation><nlm:aff id="aff2"><institution>Laboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D." last="Notarangelo">Luigi D. Notarangelo</name><affiliation><nlm:aff id="aff10"><institution>Division of Immunology, Boston Children's Hospital, Boston, MA 02115</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff11"><institution>Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138</institution></nlm:aff></affiliation></author><author><name sortKey="Jouanguy, Emmanuelle" sort="Jouanguy, Emmanuelle" uniqKey="Jouanguy E" first="Emmanuelle" last="Jouanguy">Emmanuelle Jouanguy</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>St. Vincent's Clinical School, University of New South Wales, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Beziat, Vivien" sort="Beziat, Vivien" uniqKey="Beziat V" first="Vivien" last="Béziat">Vivien Béziat</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff19"><institution>Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author></analytic><series><title level="j">The Journal of Experimental Medicine</title><idno type="ISSN">0022-1007</idno><idno type="eISSN">1540-9538</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Antigens, CD28 (metabolism)</term><term>B-Lymphocytes (immunology)</term><term>Base Sequence</term><term>CD4-Positive T-Lymphocytes (immunology)</term><term>Cell Differentiation (genetics)</term><term>Cell Proliferation (genetics)</term><term>Cell Survival (genetics)</term><term>Child</term><term>Child, Preschool</term><term>Dimerization</term><term>Female</term><term>HEK293 Cells</term><term>Humans</term><term>Immunologic Memory</term><term>Immunophenotyping</term><term>Leukocytes (pathology)</term><term>Male</term><term>Microfilament Proteins (genetics)</term><term>Mutation (genetics)</term><term>NF-kappa B (metabolism)</term><term>Pedigree</term><term>Phenotype</term><term>Receptors, Antigen, B-Cell</term><term>Signal Transduction</term><term>T-Lymphocytes (immunology)</term><term>Th17 Cells (immunology)</term><term>Th2 Cells (immunology)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Allèles</term><term>Antigène CD28 (métabolisme)</term><term>Cellules HEK293</term><term>Cellules Th17 (immunologie)</term><term>Différenciation cellulaire (génétique)</term><term>Dimérisation</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Facteur de transcription NF-kappa B (métabolisme)</term><term>Femelle</term><term>Humains</term><term>Immunophénotypage</term><term>Jeune adulte</term><term>Leucocytes (anatomopathologie)</term><term>Lymphocytes B (immunologie)</term><term>Lymphocytes T (immunologie)</term><term>Lymphocytes T CD4+ (immunologie)</term><term>Lymphocytes auxiliaires Th2 (immunologie)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Mémoire immunologique</term><term>Pedigree</term><term>Phénotype</term><term>Prolifération cellulaire (génétique)</term><term>Protéines des microfilaments (génétique)</term><term>Récepteurs pour l'antigène des lymphocytes B</term><term>Survie cellulaire (génétique)</term><term>Séquence nucléotidique</term><term>Transduction du signal</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Microfilament Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Antigens, CD28</term><term>NF-kappa B</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Leucocytes</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cell Differentiation</term><term>Cell Proliferation</term><term>Cell Survival</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Différenciation cellulaire</term><term>Mutation</term><term>Prolifération cellulaire</term><term>Protéines des microfilaments</term><term>Survie cellulaire</term></keywords><keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Cellules Th17</term><term>Lymphocytes B</term><term>Lymphocytes T</term><term>Lymphocytes T CD4+</term><term>Lymphocytes auxiliaires Th2</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>B-Lymphocytes</term><term>CD4-Positive T-Lymphocytes</term><term>T-Lymphocytes</term><term>Th17 Cells</term><term>Th2 Cells</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Antigène CD28</term><term>Facteur de transcription NF-kappa B</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Leukocytes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Base Sequence</term><term>Child</term><term>Child, Preschool</term><term>Dimerization</term><term>Female</term><term>HEK293 Cells</term><term>Humans</term><term>Immunologic Memory</term><term>Immunophenotyping</term><term>Male</term><term>Pedigree</term><term>Phenotype</term><term>Receptors, Antigen, B-Cell</term><term>Signal Transduction</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Allèles</term><term>Cellules HEK293</term><term>Dimérisation</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Immunophénotypage</term><term>Jeune adulte</term><term>Mâle</term><term>Mémoire immunologique</term><term>Pedigree</term><term>Phénotype</term><term>Récepteurs pour l'antigène des lymphocytes B</term><term>Séquence nucléotidique</term><term>Transduction du signal</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>In two complementary papers, Casanova, Malissen, and collaborators report the discovery of human RLTPR deficiency, the first primary immunodeficiency of the human CD28 pathway in T cells. Together, the two studies highlight the important and largely (but not completely) overlapping roles of RLTPR in T and B cells of humans and mice.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Acuto, O" uniqKey="Acuto O">O. Acuto</name></author><author><name sortKey="Michel, F" uniqKey="Michel F">F. Michel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Adzhubei, I A" uniqKey="Adzhubei I">I.A. Adzhubei</name></author><author><name sortKey="Schmidt, S" uniqKey="Schmidt S">S. Schmidt</name></author><author><name sortKey="Peshkin, L" uniqKey="Peshkin L">L. Peshkin</name></author><author><name sortKey="Ramensky, V E" uniqKey="Ramensky V">V.E. Ramensky</name></author><author><name sortKey="Gerasimova, A" uniqKey="Gerasimova A">A. Gerasimova</name></author><author><name sortKey="Bork, P" uniqKey="Bork P">P. Bork</name></author><author><name sortKey="Kondrashov, A S" uniqKey="Kondrashov A">A.S. 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National de la Santé et de la Recherche Médicale U905, Institute for Research and Innovation in Biomedicine, Rouen Normandy University, 76183 Rouen, France</institution></nlm:aff></affiliation></author><author><name sortKey="Payne, Kathryn" sort="Payne, Kathryn" uniqKey="Payne K" first="Kathryn" last="Payne">Kathryn Payne</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Crestani, Elena" sort="Crestani, Elena" uniqKey="Crestani E" first="Elena" last="Crestani">Elena Crestani</name><affiliation><nlm:aff id="aff10"><institution>Division of Immunology, Boston Children's Hospital, Boston, MA 02115</institution></nlm:aff></affiliation></author><author><name sortKey="Roncagalli, Romain" sort="Roncagalli, Romain" uniqKey="Roncagalli R" first="Romain" last="Roncagalli">Romain Roncagalli</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Kerner, Gaspard" sort="Kerner, Gaspard" uniqKey="Kerner G" first="Gaspard" last="Kerner">Gaspard Kerner</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Deswarte, Caroline" sort="Deswarte, Caroline" uniqKey="Deswarte C" first="Caroline" last="Deswarte">Caroline Deswarte</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Chrabieh, Maya" sort="Chrabieh, Maya" uniqKey="Chrabieh M" first="Maya" last="Chrabieh">Maya Chrabieh</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Patin, Etienne" sort="Patin, Etienne" uniqKey="Patin E" first="Etienne" last="Patin">Etienne Patin</name><affiliation><nlm:aff id="aff13"><institution>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>Centre National de la Recherche Scientifique URA 3012, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Vincent, Quentin B" sort="Vincent, Quentin B" uniqKey="Vincent Q" first="Quentin B." last="Vincent">Quentin B. Vincent</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Muller Fleckenstein, Ingrid" sort="Muller Fleckenstein, Ingrid" uniqKey="Muller Fleckenstein I" first="Ingrid" last="Müller-Fleckenstein">Ingrid Müller-Fleckenstein</name><affiliation><nlm:aff id="aff15"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Fleckenstein, Bernhard" sort="Fleckenstein, Bernhard" uniqKey="Fleckenstein B" first="Bernhard" last="Fleckenstein">Bernhard Fleckenstein</name><affiliation><nlm:aff id="aff15"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><affiliation><nlm:aff id="aff6"><institution>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis Quintana-Murci</name><affiliation><nlm:aff id="aff13"><institution>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>Centre National de la Recherche Scientifique URA 3012, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Fraitag, Sylvie" sort="Fraitag, Sylvie" uniqKey="Fraitag S" first="Sylvie" last="Fraitag">Sylvie Fraitag</name><affiliation><nlm:aff id="aff16"><institution>Department of Pathology, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Alyanakian, Marie Alexandra" sort="Alyanakian, Marie Alexandra" uniqKey="Alyanakian M" first="Marie-Alexandra" last="Alyanakian">Marie-Alexandra Alyanakian</name><affiliation><nlm:aff id="aff17"><institution>Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Leruez Ville, Marianne" sort="Leruez Ville, Marianne" uniqKey="Leruez Ville M" first="Marianne" last="Leruez-Ville">Marianne Leruez-Ville</name><affiliation><nlm:aff id="aff18"><institution>Virology Laboratory, Paris Descartes University, Sorbonne Paris Cité-EA 36–20, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Malissen, Marie" sort="Malissen, Marie" uniqKey="Malissen M" first="Marie" last="Malissen">Marie Malissen</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Malissen, Bernard" sort="Malissen, Bernard" uniqKey="Malissen B" first="Bernard" last="Malissen">Bernard Malissen</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Hovnanian, Alain" sort="Hovnanian, Alain" uniqKey="Hovnanian A" first="Alain" last="Hovnanian">Alain Hovnanian</name><affiliation><nlm:aff id="aff2"><institution>Laboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D." last="Notarangelo">Luigi D. Notarangelo</name><affiliation><nlm:aff id="aff10"><institution>Division of Immunology, Boston Children's Hospital, Boston, MA 02115</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff11"><institution>Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138</institution></nlm:aff></affiliation></author><author><name sortKey="Jouanguy, Emmanuelle" sort="Jouanguy, Emmanuelle" uniqKey="Jouanguy E" first="Emmanuelle" last="Jouanguy">Emmanuelle Jouanguy</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>St. Vincent's Clinical School, University of New South Wales, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Beziat, Vivien" sort="Beziat, Vivien" uniqKey="Beziat V" first="Vivien" last="Béziat">Vivien Béziat</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff19"><institution>Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27647349</idno><idno type="pmc">5068239</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5068239</idno><idno type="RBID">PMC:5068239</idno><idno type="doi">10.1084/jem.20160576</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">002670</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002670</idno><idno type="wicri:Area/Pmc/Curation">002520</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002520</idno><idno type="wicri:Area/Pmc/Checkpoint">000A01</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000A01</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Dual T cell– and B cell–intrinsic deficiency in humans with biallelic <italic>RLTPR</italic> mutations</title><author><name sortKey="Wang, Yi" sort="Wang, Yi" uniqKey="Wang Y" first="Yi" last="Wang">Yi Wang</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S." last="Ma">Cindy S. Ma</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>St. Vincent's Clinical School, University of New South Wales, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Ling, Yun" sort="Ling, Yun" uniqKey="Ling Y" first="Yun" last="Ling">Yun Ling</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="aff6"><institution>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Camcioglu, Yildiz" sort="Camcioglu, Yildiz" uniqKey="Camcioglu Y" first="Yildiz" last="Camcioglu">Yildiz Camcioglu</name><affiliation><nlm:aff id="aff7"><institution>Division of Infectious Diseases, Clinical Immunology, and Allergy, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University, 34452 Istanbul, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Jacquot, Serge" sort="Jacquot, Serge" uniqKey="Jacquot S" first="Serge" last="Jacquot">Serge Jacquot</name><affiliation><nlm:aff id="aff8"><institution>Immunology Unit, Rouen University Hospital, 76031 Rouen, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Institut National de la Santé et de la Recherche Médicale U905, Institute for Research and Innovation in Biomedicine, Rouen Normandy University, 76183 Rouen, France</institution></nlm:aff></affiliation></author><author><name sortKey="Payne, Kathryn" sort="Payne, Kathryn" uniqKey="Payne K" first="Kathryn" last="Payne">Kathryn Payne</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Crestani, Elena" sort="Crestani, Elena" uniqKey="Crestani E" first="Elena" last="Crestani">Elena Crestani</name><affiliation><nlm:aff id="aff10"><institution>Division of Immunology, Boston Children's Hospital, Boston, MA 02115</institution></nlm:aff></affiliation></author><author><name sortKey="Roncagalli, Romain" sort="Roncagalli, Romain" uniqKey="Roncagalli R" first="Romain" last="Roncagalli">Romain Roncagalli</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Kerner, Gaspard" sort="Kerner, Gaspard" uniqKey="Kerner G" first="Gaspard" last="Kerner">Gaspard Kerner</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Deswarte, Caroline" sort="Deswarte, Caroline" uniqKey="Deswarte C" first="Caroline" last="Deswarte">Caroline Deswarte</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Chrabieh, Maya" sort="Chrabieh, Maya" uniqKey="Chrabieh M" first="Maya" last="Chrabieh">Maya Chrabieh</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Patin, Etienne" sort="Patin, Etienne" uniqKey="Patin E" first="Etienne" last="Patin">Etienne Patin</name><affiliation><nlm:aff id="aff13"><institution>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>Centre National de la Recherche Scientifique URA 3012, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Vincent, Quentin B" sort="Vincent, Quentin B" uniqKey="Vincent Q" first="Quentin B." last="Vincent">Quentin B. Vincent</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Muller Fleckenstein, Ingrid" sort="Muller Fleckenstein, Ingrid" uniqKey="Muller Fleckenstein I" first="Ingrid" last="Müller-Fleckenstein">Ingrid Müller-Fleckenstein</name><affiliation><nlm:aff id="aff15"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Fleckenstein, Bernhard" sort="Fleckenstein, Bernhard" uniqKey="Fleckenstein B" first="Bernhard" last="Fleckenstein">Bernhard Fleckenstein</name><affiliation><nlm:aff id="aff15"><institution>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><affiliation><nlm:aff id="aff6"><institution>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco</institution></nlm:aff></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis Quintana-Murci</name><affiliation><nlm:aff id="aff13"><institution>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff14"><institution>Centre National de la Recherche Scientifique URA 3012, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Fraitag, Sylvie" sort="Fraitag, Sylvie" uniqKey="Fraitag S" first="Sylvie" last="Fraitag">Sylvie Fraitag</name><affiliation><nlm:aff id="aff16"><institution>Department of Pathology, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Alyanakian, Marie Alexandra" sort="Alyanakian, Marie Alexandra" uniqKey="Alyanakian M" first="Marie-Alexandra" last="Alyanakian">Marie-Alexandra Alyanakian</name><affiliation><nlm:aff id="aff17"><institution>Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Leruez Ville, Marianne" sort="Leruez Ville, Marianne" uniqKey="Leruez Ville M" first="Marianne" last="Leruez-Ville">Marianne Leruez-Ville</name><affiliation><nlm:aff id="aff18"><institution>Virology Laboratory, Paris Descartes University, Sorbonne Paris Cité-EA 36–20, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Malissen, Marie" sort="Malissen, Marie" uniqKey="Malissen M" first="Marie" last="Malissen">Marie Malissen</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Malissen, Bernard" sort="Malissen, Bernard" uniqKey="Malissen B" first="Bernard" last="Malissen">Bernard Malissen</name><affiliation><nlm:aff id="aff12"><institution>Center for Immunology Marseille-Luminy, 13288 Marseille, France</institution></nlm:aff></affiliation></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Hovnanian, Alain" sort="Hovnanian, Alain" uniqKey="Hovnanian A" first="Alain" last="Hovnanian">Alain Hovnanian</name><affiliation><nlm:aff id="aff2"><institution>Laboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D." last="Notarangelo">Luigi D. Notarangelo</name><affiliation><nlm:aff id="aff10"><institution>Division of Immunology, Boston Children's Hospital, Boston, MA 02115</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff11"><institution>Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138</institution></nlm:aff></affiliation></author><author><name sortKey="Jouanguy, Emmanuelle" sort="Jouanguy, Emmanuelle" uniqKey="Jouanguy E" first="Emmanuelle" last="Jouanguy">Emmanuelle Jouanguy</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>St. Vincent's Clinical School, University of New South Wales, Darlinghurst, Sydney, NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Beziat, Vivien" sort="Beziat, Vivien" uniqKey="Beziat V" first="Vivien" last="Béziat">Vivien Béziat</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="aff1"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff19"><institution>Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation></author></analytic><series><title level="j">The Journal of Experimental Medicine</title><idno type="ISSN">0022-1007</idno><idno type="eISSN">1540-9538</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>In two complementary papers, Casanova, Malissen, and collaborators report the discovery of human RLTPR deficiency, the first primary immunodeficiency of the human CD28 pathway in T cells. 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Ma</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010</wicri:regionArea><wicri:noRegion>NSW 2010</wicri:noRegion></affiliation></author><author><name sortKey="Ling, Yun" sort="Ling, Yun" uniqKey="Ling Y" first="Yun" last="Ling">Yun Ling</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100</wicri:regionArea><wicri:noRegion>Casablanca 20100</wicri:noRegion></affiliation></author><author><name sortKey="Camcioglu, Yildiz" sort="Camcioglu, Yildiz" uniqKey="Camcioglu Y" first="Yildiz" last="Camcioglu">Yildiz Camcioglu</name><affiliation wicri:level="1"><nlm:affiliation>Division of Infectious Diseases, Clinical Immunology, and Allergy, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University, 34452 Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Division of Infectious Diseases, Clinical Immunology, and Allergy, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University, 34452 Istanbul</wicri:regionArea><wicri:noRegion>34452 Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Jacquot, Serge" sort="Jacquot, Serge" uniqKey="Jacquot S" first="Serge" last="Jacquot">Serge Jacquot</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Unit, Rouen University Hospital, 76031 Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Immunology Unit, Rouen University Hospital, 76031 Rouen</wicri:regionArea><wicri:noRegion>76031 Rouen</wicri:noRegion><wicri:noRegion>76031 Rouen</wicri:noRegion></affiliation></author><author><name sortKey="Payne, Kathryn" sort="Payne, Kathryn" uniqKey="Payne K" first="Kathryn" last="Payne">Kathryn Payne</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010</wicri:regionArea><wicri:noRegion>NSW 2010</wicri:noRegion></affiliation></author><author><name sortKey="Crestani, Elena" sort="Crestani, Elena" uniqKey="Crestani E" first="Elena" last="Crestani">Elena Crestani</name><affiliation wicri:level="2"><nlm:affiliation>Division of Immunology, Boston Children's Hospital, Boston, MA 02115.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Immunology, Boston Children's Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Roncagalli, Romain" sort="Roncagalli, Romain" uniqKey="Roncagalli R" first="Romain" last="Roncagalli">Romain Roncagalli</name><affiliation wicri:level="1"><nlm:affiliation>Center for Immunology Marseille-Luminy, 13288 Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Center for Immunology Marseille-Luminy, 13288 Marseille</wicri:regionArea><wicri:noRegion>13288 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Kerner, Gaspard" sort="Kerner, Gaspard" uniqKey="Kerner G" first="Gaspard" last="Kerner">Gaspard Kerner</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Deswarte, Caroline" sort="Deswarte, Caroline" uniqKey="Deswarte C" first="Caroline" last="Deswarte">Caroline Deswarte</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Chrabieh, Maya" sort="Chrabieh, Maya" uniqKey="Chrabieh M" first="Maya" last="Chrabieh">Maya Chrabieh</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Patin, Etienne" sort="Patin, Etienne" uniqKey="Patin E" first="Etienne" last="Patin">Etienne Patin</name><affiliation wicri:level="1"><nlm:affiliation>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Vincent, Quentin B" sort="Vincent, Quentin B" uniqKey="Vincent Q" first="Quentin B" last="Vincent">Quentin B. Vincent</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Muller Fleckenstein, Ingrid" sort="Muller Fleckenstein, Ingrid" uniqKey="Muller Fleckenstein I" first="Ingrid" last="Müller-Fleckenstein">Ingrid Müller-Fleckenstein</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen</wicri:regionArea><wicri:noRegion>91054 Erlangen</wicri:noRegion><wicri:noRegion>91054 Erlangen</wicri:noRegion><wicri:noRegion>D-91054 Erlangen</wicri:noRegion></affiliation></author><author><name sortKey="Fleckenstein, Bernhard" sort="Fleckenstein, Bernhard" uniqKey="Fleckenstein B" first="Bernhard" last="Fleckenstein">Bernhard Fleckenstein</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen</wicri:regionArea><wicri:noRegion>91054 Erlangen</wicri:noRegion><wicri:noRegion>91054 Erlangen</wicri:noRegion><wicri:noRegion>D-91054 Erlangen</wicri:noRegion></affiliation></author><author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100</wicri:regionArea><wicri:noRegion>Casablanca 20100</wicri:noRegion></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis Quintana-Murci</name><affiliation wicri:level="1"><nlm:affiliation>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Fraitag, Sylvie" sort="Fraitag, Sylvie" uniqKey="Fraitag S" first="Sylvie" last="Fraitag">Sylvie Fraitag</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pathology, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Alyanakian, Marie Alexandra" sort="Alyanakian, Marie Alexandra" uniqKey="Alyanakian M" first="Marie-Alexandra" last="Alyanakian">Marie-Alexandra Alyanakian</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Leruez Ville, Marianne" sort="Leruez Ville, Marianne" uniqKey="Leruez Ville M" first="Marianne" last="Leruez-Ville">Marianne Leruez-Ville</name><affiliation wicri:level="1"><nlm:affiliation>Virology Laboratory, Paris Descartes University, Sorbonne Paris Cité-EA 36-20, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Virology Laboratory, Paris Descartes University, Sorbonne Paris Cité-EA 36-20, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Malissen, Marie" sort="Malissen, Marie" uniqKey="Malissen M" first="Marie" last="Malissen">Marie Malissen</name><affiliation wicri:level="1"><nlm:affiliation>Center for Immunology Marseille-Luminy, 13288 Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Center for Immunology Marseille-Luminy, 13288 Marseille</wicri:regionArea><wicri:noRegion>13288 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Malissen, Bernard" sort="Malissen, Bernard" uniqKey="Malissen B" first="Bernard" last="Malissen">Bernard Malissen</name><affiliation wicri:level="1"><nlm:affiliation>Center for Immunology Marseille-Luminy, 13288 Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Center for Immunology Marseille-Luminy, 13288 Marseille</wicri:regionArea><wicri:noRegion>13288 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Hovnanian, Alain" sort="Hovnanian, Alain" uniqKey="Hovnanian A" first="Alain" last="Hovnanian">Alain Hovnanian</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D" last="Notarangelo">Luigi D. Notarangelo</name><affiliation wicri:level="2"><nlm:affiliation>Division of Immunology, Boston Children's Hospital, Boston, MA 02115.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Immunology, Boston Children's Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Jouanguy, Emmanuelle" sort="Jouanguy, Emmanuelle" uniqKey="Jouanguy E" first="Emmanuelle" last="Jouanguy">Emmanuelle Jouanguy</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G" last="Tangye">Stuart G. Tangye</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010</wicri:regionArea><wicri:noRegion>NSW 2010</wicri:noRegion></affiliation></author><author><name sortKey="Beziat, Vivien" sort="Beziat, Vivien" uniqKey="Beziat V" first="Vivien" last="Béziat">Vivien Béziat</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France vivien.beziat@inserm.fr.</nlm:affiliation><country wicri:rule="url">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27647349</idno><idno type="pmid">27647349</idno><idno type="doi">10.1084/jem.20160576</idno><idno type="wicri:Area/PubMed/Corpus">001775</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001775</idno><idno type="wicri:Area/PubMed/Curation">001752</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001752</idno><idno type="wicri:Area/PubMed/Checkpoint">001752</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001752</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.</title><author><name sortKey="Wang, Yi" sort="Wang, Yi" uniqKey="Wang Y" first="Yi" last="Wang">Yi Wang</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Ma, Cindy S" sort="Ma, Cindy S" uniqKey="Ma C" first="Cindy S" last="Ma">Cindy S. Ma</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010</wicri:regionArea><wicri:noRegion>NSW 2010</wicri:noRegion></affiliation></author><author><name sortKey="Ling, Yun" sort="Ling, Yun" uniqKey="Ling Y" first="Yun" last="Ling">Yun Ling</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100</wicri:regionArea><wicri:noRegion>Casablanca 20100</wicri:noRegion></affiliation></author><author><name sortKey="Camcioglu, Yildiz" sort="Camcioglu, Yildiz" uniqKey="Camcioglu Y" first="Yildiz" last="Camcioglu">Yildiz Camcioglu</name><affiliation wicri:level="1"><nlm:affiliation>Division of Infectious Diseases, Clinical Immunology, and Allergy, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University, 34452 Istanbul, Turkey.</nlm:affiliation><country xml:lang="fr">Turquie</country><wicri:regionArea>Division of Infectious Diseases, Clinical Immunology, and Allergy, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University, 34452 Istanbul</wicri:regionArea><wicri:noRegion>34452 Istanbul</wicri:noRegion></affiliation></author><author><name sortKey="Jacquot, Serge" sort="Jacquot, Serge" uniqKey="Jacquot S" first="Serge" last="Jacquot">Serge Jacquot</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Unit, Rouen University Hospital, 76031 Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Immunology Unit, Rouen University Hospital, 76031 Rouen</wicri:regionArea><wicri:noRegion>76031 Rouen</wicri:noRegion><wicri:noRegion>76031 Rouen</wicri:noRegion></affiliation></author><author><name sortKey="Payne, Kathryn" sort="Payne, Kathryn" uniqKey="Payne K" first="Kathryn" last="Payne">Kathryn Payne</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010</wicri:regionArea><wicri:noRegion>NSW 2010</wicri:noRegion></affiliation></author><author><name sortKey="Crestani, Elena" sort="Crestani, Elena" uniqKey="Crestani E" first="Elena" last="Crestani">Elena Crestani</name><affiliation wicri:level="2"><nlm:affiliation>Division of Immunology, Boston Children's Hospital, Boston, MA 02115.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Immunology, Boston Children's Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Roncagalli, Romain" sort="Roncagalli, Romain" uniqKey="Roncagalli R" first="Romain" last="Roncagalli">Romain Roncagalli</name><affiliation wicri:level="1"><nlm:affiliation>Center for Immunology Marseille-Luminy, 13288 Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Center for Immunology Marseille-Luminy, 13288 Marseille</wicri:regionArea><wicri:noRegion>13288 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Belkadi, Aziz" sort="Belkadi, Aziz" uniqKey="Belkadi A" first="Aziz" last="Belkadi">Aziz Belkadi</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Kerner, Gaspard" sort="Kerner, Gaspard" uniqKey="Kerner G" first="Gaspard" last="Kerner">Gaspard Kerner</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Lorenzo, Lazaro" sort="Lorenzo, Lazaro" uniqKey="Lorenzo L" first="Lazaro" last="Lorenzo">Lazaro Lorenzo</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Deswarte, Caroline" sort="Deswarte, Caroline" uniqKey="Deswarte C" first="Caroline" last="Deswarte">Caroline Deswarte</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Chrabieh, Maya" sort="Chrabieh, Maya" uniqKey="Chrabieh M" first="Maya" last="Chrabieh">Maya Chrabieh</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Patin, Etienne" sort="Patin, Etienne" uniqKey="Patin E" first="Etienne" last="Patin">Etienne Patin</name><affiliation wicri:level="1"><nlm:affiliation>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Vincent, Quentin B" sort="Vincent, Quentin B" uniqKey="Vincent Q" first="Quentin B" last="Vincent">Quentin B. Vincent</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Muller Fleckenstein, Ingrid" sort="Muller Fleckenstein, Ingrid" uniqKey="Muller Fleckenstein I" first="Ingrid" last="Müller-Fleckenstein">Ingrid Müller-Fleckenstein</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen</wicri:regionArea><wicri:noRegion>91054 Erlangen</wicri:noRegion><wicri:noRegion>91054 Erlangen</wicri:noRegion><wicri:noRegion>D-91054 Erlangen</wicri:noRegion></affiliation></author><author><name sortKey="Fleckenstein, Bernhard" sort="Fleckenstein, Bernhard" uniqKey="Fleckenstein B" first="Bernhard" last="Fleckenstein">Bernhard Fleckenstein</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical and Molecular Virology, University of Erlangen-Nürnberg, D-91054 Erlangen</wicri:regionArea><wicri:noRegion>91054 Erlangen</wicri:noRegion><wicri:noRegion>91054 Erlangen</wicri:noRegion><wicri:noRegion>D-91054 Erlangen</wicri:noRegion></affiliation></author><author><name sortKey="Ailal, Fatima" sort="Ailal, Fatima" uniqKey="Ailal F" first="Fatima" last="Ailal">Fatima Ailal</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100, Morocco.</nlm:affiliation><country xml:lang="fr">Maroc</country><wicri:regionArea>Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca 20100</wicri:regionArea><wicri:noRegion>Casablanca 20100</wicri:noRegion></affiliation></author><author><name sortKey="Quintana Murci, Lluis" sort="Quintana Murci, Lluis" uniqKey="Quintana Murci L" first="Lluis" last="Quintana-Murci">Lluis Quintana-Murci</name><affiliation wicri:level="1"><nlm:affiliation>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Human Evolutionary Genetics Unit, Institut Pasteur, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Fraitag, Sylvie" sort="Fraitag, Sylvie" uniqKey="Fraitag S" first="Sylvie" last="Fraitag">Sylvie Fraitag</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pathology, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Alyanakian, Marie Alexandra" sort="Alyanakian, Marie Alexandra" uniqKey="Alyanakian M" first="Marie-Alexandra" last="Alyanakian">Marie-Alexandra Alyanakian</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Immunology Unit, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Leruez Ville, Marianne" sort="Leruez Ville, Marianne" uniqKey="Leruez Ville M" first="Marianne" last="Leruez-Ville">Marianne Leruez-Ville</name><affiliation wicri:level="1"><nlm:affiliation>Virology Laboratory, Paris Descartes University, Sorbonne Paris Cité-EA 36-20, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Virology Laboratory, Paris Descartes University, Sorbonne Paris Cité-EA 36-20, Necker Hospital for Sick Children, Assistance Publique - Hôpitaux de Paris, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Puel, Anne" sort="Puel, Anne" uniqKey="Puel A" first="Anne" last="Puel">Anne Puel</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Bustamante, Jacinta" sort="Bustamante, Jacinta" uniqKey="Bustamante J" first="Jacinta" last="Bustamante">Jacinta Bustamante</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Boisson Dupuis, Stephanie" sort="Boisson Dupuis, Stephanie" uniqKey="Boisson Dupuis S" first="Stéphanie" last="Boisson-Dupuis">Stéphanie Boisson-Dupuis</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Malissen, Marie" sort="Malissen, Marie" uniqKey="Malissen M" first="Marie" last="Malissen">Marie Malissen</name><affiliation wicri:level="1"><nlm:affiliation>Center for Immunology Marseille-Luminy, 13288 Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Center for Immunology Marseille-Luminy, 13288 Marseille</wicri:regionArea><wicri:noRegion>13288 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Malissen, Bernard" sort="Malissen, Bernard" uniqKey="Malissen B" first="Bernard" last="Malissen">Bernard Malissen</name><affiliation wicri:level="1"><nlm:affiliation>Center for Immunology Marseille-Luminy, 13288 Marseille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Center for Immunology Marseille-Luminy, 13288 Marseille</wicri:regionArea><wicri:noRegion>13288 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Hovnanian, Alain" sort="Hovnanian, Alain" uniqKey="Hovnanian A" first="Alain" last="Hovnanian">Alain Hovnanian</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Genetic Skin Diseases: from Disease Mechanism to Therapies, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Notarangelo, Luigi D" sort="Notarangelo, Luigi D" uniqKey="Notarangelo L" first="Luigi D" last="Notarangelo">Luigi D. Notarangelo</name><affiliation wicri:level="2"><nlm:affiliation>Division of Immunology, Boston Children's Hospital, Boston, MA 02115.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Immunology, Boston Children's Hospital, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Jouanguy, Emmanuelle" sort="Jouanguy, Emmanuelle" uniqKey="Jouanguy E" first="Emmanuelle" last="Jouanguy">Emmanuelle Jouanguy</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G" last="Tangye">Stuart G. Tangye</name><affiliation wicri:level="1"><nlm:affiliation>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010</wicri:regionArea><wicri:noRegion>NSW 2010</wicri:noRegion></affiliation></author><author><name sortKey="Beziat, Vivien" sort="Beziat, Vivien" uniqKey="Beziat V" first="Vivien" last="Béziat">Vivien Béziat</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France vivien.beziat@inserm.fr.</nlm:affiliation><country wicri:rule="url">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, 75015 Paris</wicri:regionArea><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author></analytic><series><title level="j">The Journal of experimental medicine</title><idno type="eISSN">1540-9538</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Antigens, CD28 (metabolism)</term><term>B-Lymphocytes (immunology)</term><term>Base Sequence</term><term>CD4-Positive T-Lymphocytes (immunology)</term><term>Cell Differentiation (genetics)</term><term>Cell Proliferation (genetics)</term><term>Cell Survival (genetics)</term><term>Child</term><term>Child, Preschool</term><term>Dimerization</term><term>Female</term><term>HEK293 Cells</term><term>Humans</term><term>Immunologic Memory</term><term>Immunophenotyping</term><term>Leukocytes (pathology)</term><term>Male</term><term>Microfilament Proteins (genetics)</term><term>Mutation (genetics)</term><term>NF-kappa B (metabolism)</term><term>Pedigree</term><term>Phenotype</term><term>Receptors, Antigen, B-Cell</term><term>Signal Transduction</term><term>T-Lymphocytes (immunology)</term><term>Th17 Cells (immunology)</term><term>Th2 Cells (immunology)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Allèles</term><term>Antigène CD28 (métabolisme)</term><term>Cellules HEK293</term><term>Cellules Th17 (immunologie)</term><term>Différenciation cellulaire (génétique)</term><term>Dimérisation</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Facteur de transcription NF-kappa B (métabolisme)</term><term>Femelle</term><term>Humains</term><term>Immunophénotypage</term><term>Jeune adulte</term><term>Leucocytes (anatomopathologie)</term><term>Lymphocytes B (immunologie)</term><term>Lymphocytes T (immunologie)</term><term>Lymphocytes T CD4+ (immunologie)</term><term>Lymphocytes auxiliaires Th2 (immunologie)</term><term>Mutation (génétique)</term><term>Mâle</term><term>Mémoire immunologique</term><term>Pedigree</term><term>Phénotype</term><term>Prolifération cellulaire (génétique)</term><term>Protéines des microfilaments (génétique)</term><term>Récepteurs pour l'antigène des lymphocytes B</term><term>Survie cellulaire (génétique)</term><term>Séquence nucléotidique</term><term>Transduction du signal</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Microfilament Proteins</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Antigens, CD28</term><term>NF-kappa B</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Leucocytes</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cell Differentiation</term><term>Cell Proliferation</term><term>Cell Survival</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Différenciation cellulaire</term><term>Mutation</term><term>Prolifération cellulaire</term><term>Protéines des microfilaments</term><term>Survie cellulaire</term></keywords><keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Cellules Th17</term><term>Lymphocytes B</term><term>Lymphocytes T</term><term>Lymphocytes T CD4+</term><term>Lymphocytes auxiliaires Th2</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>B-Lymphocytes</term><term>CD4-Positive T-Lymphocytes</term><term>T-Lymphocytes</term><term>Th17 Cells</term><term>Th2 Cells</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Antigène CD28</term><term>Facteur de transcription NF-kappa B</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Leukocytes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Base Sequence</term><term>Child</term><term>Child, Preschool</term><term>Dimerization</term><term>Female</term><term>HEK293 Cells</term><term>Humans</term><term>Immunologic Memory</term><term>Immunophenotyping</term><term>Male</term><term>Pedigree</term><term>Phenotype</term><term>Receptors, Antigen, B-Cell</term><term>Signal Transduction</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Allèles</term><term>Cellules HEK293</term><term>Dimérisation</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Immunophénotypage</term><term>Jeune adulte</term><term>Mâle</term><term>Mémoire immunologique</term><term>Pedigree</term><term>Phénotype</term><term>Récepteurs pour l'antigène des lymphocytes B</term><term>Séquence nucléotidique</term><term>Transduction du signal</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Combined immunodeficiency (CID) refers to inborn errors of human T cells that also affect B cells because of the T cell deficit or an additional B cell-intrinsic deficit. In this study, we report six patients from three unrelated families with biallelic loss-of-function mutations in RLTPR, the mouse orthologue of which is essential for CD28 signaling. The patients have cutaneous and pulmonary allergy, as well as a variety of bacterial and fungal infectious diseases, including invasive tuberculosis and mucocutaneous candidiasis. Proportions of circulating regulatory T cells and memory CD4(+) T cells are reduced. Their CD4(+) T cells do not respond to CD28 stimulation. Their CD4(+) T cells exhibit a "Th2" cell bias ex vivo and when cultured in vitro, contrasting with the paucity of "Th1," "Th17," and T follicular helper cells. The patients also display few memory B cells and poor antibody responses. This B cell phenotype does not result solely from the T cell deficiency, as the patients' B cells fail to activate NF-κB upon B cell receptor (BCR) stimulation. Human RLTPR deficiency is a CID affecting at least the CD28-responsive pathway in T cells and the BCR-responsive pathway in B cells.</div></front></TEI></pubmed></double></record>Pour manipuler ce document sous Unix (Dilib)
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