Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency
Identifieur interne : 000F52 ( Main/Exploration ); précédent : 000F51; suivant : 000F53Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency
Auteurs : Hassan Abolhassani ; Emily S. J. Edwards ; Aydan Ikinciogullari ; Huie Jing ; Stephan Borte ; Marcus Buggert ; Likun Du ; Mami Matsuda-Lennikov ; Rosa Romano ; Rozina Caridha ; Sangeeta Bade ; Yu Zhang ; Juliet Frederiksen ; Mingyan Fang ; Sevgi Kostel Bal ; Sule Haskologlu ; Figen Dogu ; Nurdan Tacyildiz ; Helen F. Matthews ; Joshua J. Mcelwee ; Emma Gostick ; David A. Price ; Umaimainthan Palendira ; Asghar Aghamohammadi ; Bertrand Boisson ; Nima Rezaei ; Annika C. Karlsson ; Michael J. Lenardo ; Jean-Laurent Casanova ; Lennart Hammarström ; Stuart G. Tangye ; Helen C. Su ; Qiang Pan-HammarströmSource :
- The Journal of Experimental Medicine [ 0022-1007 ] ; 2017.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Antigènes CD27 (physiologie), Antigènes CD70 (déficit), Antigènes CD70 (génétique), Cytotoxicité immunologique, Déficits immunitaires (), Enfant, Femelle, Herpèsvirus humain de type 4 (immunologie), Humains, Infections à virus Epstein-Barr (), Lymphocytes B (immunologie), Lymphocytes T CD8+ (immunologie), Maladie de Hodgkin (étiologie), Mutation, Mâle, Mémoire immunologique.
- MESH :
- déficit : Antigènes CD70.
- génétique : Antigènes CD70.
- immunologie : Herpèsvirus humain de type 4, Lymphocytes B, Lymphocytes T CD8+.
- physiologie : Antigènes CD27.
- étiologie : Maladie de Hodgkin.
- Adolescent, Adulte, Cytotoxicité immunologique, Déficits immunitaires, Enfant, Femelle, Humains, Infections à virus Epstein-Barr, Mutation, Mâle, Mémoire immunologique.
English descriptors
- KwdEn :
- Adolescent, Adult, Antigens, CD27 (physiology), Antigens, CD70 (deficiency), Antigens, CD70 (genetics), B-Lymphocytes (immunology), CD8-Positive T-Lymphocytes (immunology), Child, Cytotoxicity, Immunologic, Epstein-Barr Virus Infections (complications), Female, Herpesvirus 4, Human (immunology), Hodgkin Disease (etiology), Humans, Immunologic Deficiency Syndromes (complications), Immunologic Memory, Male, Mutation.
- MESH :
- chemical , deficiency : Antigens, CD70.
- chemical , genetics : Antigens, CD70.
- chemical , physiology : Antigens, CD27.
- complications : Epstein-Barr Virus Infections, Immunologic Deficiency Syndromes.
- etiology : Hodgkin Disease.
- immunology : B-Lymphocytes, CD8-Positive T-Lymphocytes, Herpesvirus 4, Human.
- Adolescent, Adult, Child, Cytotoxicity, Immunologic, Female, Humans, Immunologic Memory, Male, Mutation.
Abstract
Abolhassani et al. show that CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of CD27 deficiency. CD70–CD27 interactions play a nonredundant role regulating humoral- and cell-mediated immunity in humans, especially for control of EBV.
Url:
DOI: 10.1084/jem.20160849
PubMed: 28011864
PubMed Central: 5206499
Affiliations:
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Sweden</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>Department of Microbiology, University of Pennsylvania, Philadelphia, PA 19104</institution></nlm:aff></affiliation></author><author><name sortKey="Du, Likun" sort="Du, Likun" uniqKey="Du L" first="Likun" last="Du">Likun Du</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation></author><author><name sortKey="Matsuda Lennikov, Mami" sort="Matsuda Lennikov, Mami" uniqKey="Matsuda Lennikov M" first="Mami" last="Matsuda-Lennikov">Mami Matsuda-Lennikov</name><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff 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sort="Bade, Sangeeta" uniqKey="Bade S" first="Sangeeta" last="Bade">Sangeeta Bade</name><affiliation><nlm:aff id="aff8"><institution>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Zhang, Yu" sort="Zhang, Yu" uniqKey="Zhang Y" first="Yu" last="Zhang">Yu Zhang</name><affiliation><nlm:aff id="aff8"><institution>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Frederiksen, Juliet" sort="Frederiksen, Juliet" uniqKey="Frederiksen J" first="Juliet" last="Frederiksen">Juliet Frederiksen</name><affiliation><nlm:aff id="aff14"><institution>Department of Systems Biology, Technical University of Denmark, 2800 Kgs. Lyngby, Denmark</institution></nlm:aff></affiliation></author><author><name sortKey="Fang, Mingyan" sort="Fang, Mingyan" uniqKey="Fang M" first="Mingyan" last="Fang">Mingyan Fang</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation></author><author><name sortKey="Bal, Sevgi Kostel" sort="Bal, Sevgi Kostel" uniqKey="Bal S" first="Sevgi Kostel" last="Bal">Sevgi Kostel Bal</name><affiliation><nlm:aff id="aff6"><institution>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Haskologlu, Sule" sort="Haskologlu, Sule" uniqKey="Haskologlu S" first="Sule" last="Haskologlu">Sule Haskologlu</name><affiliation><nlm:aff id="aff6"><institution>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Dogu, Figen" sort="Dogu, Figen" uniqKey="Dogu F" first="Figen" last="Dogu">Figen Dogu</name><affiliation><nlm:aff id="aff6"><institution>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Tacyildiz, Nurdan" sort="Tacyildiz, Nurdan" uniqKey="Tacyildiz N" first="Nurdan" last="Tacyildiz">Nurdan Tacyildiz</name><affiliation><nlm:aff id="aff7"><institution>Department of Pediatric Hematology and Oncology, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Matthews, Helen F" sort="Matthews, Helen F" uniqKey="Matthews H" first="Helen F." last="Matthews">Helen F. Matthews</name><affiliation><nlm:aff id="aff8"><institution>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Mcelwee, Joshua J" sort="Mcelwee, Joshua J" uniqKey="Mcelwee J" first="Joshua J." last="Mcelwee">Joshua J. Mcelwee</name><affiliation><nlm:aff id="aff15"><institution>Merck Research Laboratories, Merck & Co., Boston, MA 02115</institution></nlm:aff></affiliation></author><author><name sortKey="Gostick, Emma" sort="Gostick, Emma" uniqKey="Gostick E" first="Emma" last="Gostick">Emma Gostick</name><affiliation><nlm:aff id="aff16"><institution>Division of Infection and Immunity, Cardiff University School of Medicine, Cardiff CF14 4XN, Wales, UK</institution></nlm:aff></affiliation></author><author><name sortKey="Price, David A" sort="Price, David A" uniqKey="Price D" first="David A." last="Price">David A. Price</name><affiliation><nlm:aff id="aff11"><institution>Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff16"><institution>Division of Infection and Immunity, Cardiff University School of Medicine, Cardiff CF14 4XN, Wales, UK</institution></nlm:aff></affiliation></author><author><name sortKey="Palendira, Umaimainthan" sort="Palendira, Umaimainthan" uniqKey="Palendira U" first="Umaimainthan" last="Palendira">Umaimainthan Palendira</name><affiliation><nlm:aff id="aff17"><institution>Centenary Institute, University of Sydney, Newtown NSW 2042, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Aghamohammadi, Asghar" sort="Aghamohammadi, Asghar" uniqKey="Aghamohammadi A" first="Asghar" last="Aghamohammadi">Asghar Aghamohammadi</name><affiliation><nlm:aff id="aff3"><institution>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff18"><institution>Primary Immunodeficiency Diseases Network, Universal Scientific Education and Research Network, 14149 Tehran, Iran</institution></nlm:aff></affiliation></author><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation><nlm:aff id="aff19"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale U.1163, Necker Hospital for Sick Children, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Rezaei, Nima" sort="Rezaei, Nima" uniqKey="Rezaei N" first="Nima" last="Rezaei">Nima Rezaei</name><affiliation><nlm:aff id="aff3"><institution>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff18"><institution>Primary Immunodeficiency Diseases Network, Universal Scientific Education and Research Network, 14149 Tehran, Iran</institution></nlm:aff></affiliation></author><author><name sortKey="Karlsson, Annika C" sort="Karlsson, Annika C" uniqKey="Karlsson A" first="Annika C." last="Karlsson">Annika C. Karlsson</name><affiliation><nlm:aff id="aff2"><institution>Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation></author><author><name sortKey="Lenardo, Michael J" sort="Lenardo, Michael J" uniqKey="Lenardo M" first="Michael J." last="Lenardo">Michael J. Lenardo</name><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</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="aff19"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale U.1163, Necker Hospital for Sick Children, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff23"><institution>Howard Hughes Medical Institute, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarström">Lennart Hammarström</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</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 NSW 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Su, Helen C" sort="Su, Helen C" uniqKey="Su H" first="Helen C." last="Su">Helen C. Su</name><affiliation><nlm:aff id="aff8"><institution>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Pan Hammarstrom, Qiang" sort="Pan Hammarstrom, Qiang" uniqKey="Pan Hammarstrom Q" first="Qiang" last="Pan-Hammarström">Qiang Pan-Hammarström</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">28011864</idno><idno type="pmc">5206499</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206499</idno><idno type="RBID">PMC:5206499</idno><idno type="doi">10.1084/jem.20160849</idno><date when="2017">2017</date><idno type="wicri:Area/Pmc/Corpus">002672</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002672</idno><idno type="wicri:Area/Pmc/Curation">002522</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002522</idno><idno type="wicri:Area/Pmc/Checkpoint">000388</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000388</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">001336</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001336</idno><idno type="wicri:Area/PubMed/Curation">001314</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001314</idno><idno type="wicri:Area/PubMed/Checkpoint">001314</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001314</idno><idno type="wicri:Area/Ncbi/Merge">004080</idno><idno type="wicri:Area/Ncbi/Curation">004080</idno><idno type="wicri:Area/Ncbi/Checkpoint">004080</idno><idno type="wicri:doubleKey">0022-1007:2017:Abolhassani H:combined:immunodeficiency:and</idno><idno type="wicri:Area/Main/Merge">000F47</idno><idno type="wicri:Area/Main/Curation">000F52</idno><idno type="wicri:Area/Main/Exploration">000F52</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency</title><author><name sortKey="Abolhassani, Hassan" sort="Abolhassani, Hassan" uniqKey="Abolhassani H" first="Hassan" last="Abolhassani">Hassan Abolhassani</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff3"><institution>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran</institution></nlm:aff></affiliation></author><author><name sortKey="Edwards, Emily S J" sort="Edwards, Emily S J" uniqKey="Edwards E" first="Emily S. J." last="Edwards">Emily S. J. Edwards</name><affiliation><nlm:aff id="aff4"><institution>Immunology Division, Garvan Institute of Medical Research, Darlinghurst NSW 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Ikinciogullari, Aydan" sort="Ikinciogullari, Aydan" uniqKey="Ikinciogullari A" first="Aydan" last="Ikinciogullari">Aydan Ikinciogullari</name><affiliation><nlm:aff id="aff6"><institution>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Jing, Huie" sort="Jing, Huie" uniqKey="Jing H" first="Huie" last="Jing">Huie Jing</name><affiliation><nlm:aff id="aff8"><institution>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Borte, Stephan" sort="Borte, Stephan" uniqKey="Borte S" first="Stephan" last="Borte">Stephan Borte</name><affiliation><nlm:aff id="aff12"><institution>ImmunoDeficiency Center Leipzig, Hospital St. Georg Leipzig, D-04129 Leipzig, Germany</institution></nlm:aff></affiliation></author><author><name sortKey="Buggert, Marcus" sort="Buggert, Marcus" uniqKey="Buggert M" first="Marcus" last="Buggert">Marcus Buggert</name><affiliation><nlm:aff id="aff2"><institution>Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff13"><institution>Department of Microbiology, University of Pennsylvania, Philadelphia, PA 19104</institution></nlm:aff></affiliation></author><author><name sortKey="Du, Likun" sort="Du, Likun" uniqKey="Du L" first="Likun" last="Du">Likun Du</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation></author><author><name sortKey="Matsuda Lennikov, Mami" sort="Matsuda Lennikov, Mami" uniqKey="Matsuda Lennikov M" first="Mami" last="Matsuda-Lennikov">Mami Matsuda-Lennikov</name><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Romano, Rosa" sort="Romano, Rosa" uniqKey="Romano R" first="Rosa" last="Romano">Rosa Romano</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation></author><author><name sortKey="Caridha, Rozina" sort="Caridha, Rozina" uniqKey="Caridha R" first="Rozina" last="Caridha">Rozina Caridha</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation></author><author><name sortKey="Bade, Sangeeta" sort="Bade, Sangeeta" uniqKey="Bade S" first="Sangeeta" last="Bade">Sangeeta Bade</name><affiliation><nlm:aff id="aff8"><institution>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Zhang, Yu" sort="Zhang, Yu" uniqKey="Zhang Y" first="Yu" last="Zhang">Yu Zhang</name><affiliation><nlm:aff id="aff8"><institution>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Frederiksen, Juliet" sort="Frederiksen, Juliet" uniqKey="Frederiksen J" first="Juliet" last="Frederiksen">Juliet Frederiksen</name><affiliation><nlm:aff id="aff14"><institution>Department of Systems Biology, Technical University of Denmark, 2800 Kgs. Lyngby, Denmark</institution></nlm:aff></affiliation></author><author><name sortKey="Fang, Mingyan" sort="Fang, Mingyan" uniqKey="Fang M" first="Mingyan" last="Fang">Mingyan Fang</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation></author><author><name sortKey="Bal, Sevgi Kostel" sort="Bal, Sevgi Kostel" uniqKey="Bal S" first="Sevgi Kostel" last="Bal">Sevgi Kostel Bal</name><affiliation><nlm:aff id="aff6"><institution>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Haskologlu, Sule" sort="Haskologlu, Sule" uniqKey="Haskologlu S" first="Sule" last="Haskologlu">Sule Haskologlu</name><affiliation><nlm:aff id="aff6"><institution>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Dogu, Figen" sort="Dogu, Figen" uniqKey="Dogu F" first="Figen" last="Dogu">Figen Dogu</name><affiliation><nlm:aff id="aff6"><institution>Department of Pediatric Immunology and Allergy, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Tacyildiz, Nurdan" sort="Tacyildiz, Nurdan" uniqKey="Tacyildiz N" first="Nurdan" last="Tacyildiz">Nurdan Tacyildiz</name><affiliation><nlm:aff id="aff7"><institution>Department of Pediatric Hematology and Oncology, Ankara University Medical School, 06100 Dikimevi-Ankara, Turkey</institution></nlm:aff></affiliation></author><author><name sortKey="Matthews, Helen F" sort="Matthews, Helen F" uniqKey="Matthews H" first="Helen F." last="Matthews">Helen F. Matthews</name><affiliation><nlm:aff id="aff8"><institution>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Mcelwee, Joshua J" sort="Mcelwee, Joshua J" uniqKey="Mcelwee J" first="Joshua J." last="Mcelwee">Joshua J. Mcelwee</name><affiliation><nlm:aff id="aff15"><institution>Merck Research Laboratories, Merck & Co., Boston, MA 02115</institution></nlm:aff></affiliation></author><author><name sortKey="Gostick, Emma" sort="Gostick, Emma" uniqKey="Gostick E" first="Emma" last="Gostick">Emma Gostick</name><affiliation><nlm:aff id="aff16"><institution>Division of Infection and Immunity, Cardiff University School of Medicine, Cardiff CF14 4XN, Wales, UK</institution></nlm:aff></affiliation></author><author><name sortKey="Price, David A" sort="Price, David A" uniqKey="Price D" first="David A." last="Price">David A. Price</name><affiliation><nlm:aff id="aff11"><institution>Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff16"><institution>Division of Infection and Immunity, Cardiff University School of Medicine, Cardiff CF14 4XN, Wales, UK</institution></nlm:aff></affiliation></author><author><name sortKey="Palendira, Umaimainthan" sort="Palendira, Umaimainthan" uniqKey="Palendira U" first="Umaimainthan" last="Palendira">Umaimainthan Palendira</name><affiliation><nlm:aff id="aff17"><institution>Centenary Institute, University of Sydney, Newtown NSW 2042, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Aghamohammadi, Asghar" sort="Aghamohammadi, Asghar" uniqKey="Aghamohammadi A" first="Asghar" last="Aghamohammadi">Asghar Aghamohammadi</name><affiliation><nlm:aff id="aff3"><institution>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff18"><institution>Primary Immunodeficiency Diseases Network, Universal Scientific Education and Research Network, 14149 Tehran, Iran</institution></nlm:aff></affiliation></author><author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name><affiliation><nlm:aff id="aff19"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale U.1163, Necker Hospital for Sick Children, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation></author><author><name sortKey="Rezaei, Nima" sort="Rezaei, Nima" uniqKey="Rezaei N" first="Nima" last="Rezaei">Nima Rezaei</name><affiliation><nlm:aff id="aff3"><institution>Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, 14149 Tehran, Iran</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff18"><institution>Primary Immunodeficiency Diseases Network, Universal Scientific Education and Research Network, 14149 Tehran, Iran</institution></nlm:aff></affiliation></author><author><name sortKey="Karlsson, Annika C" sort="Karlsson, Annika C" uniqKey="Karlsson A" first="Annika C." last="Karlsson">Annika C. Karlsson</name><affiliation><nlm:aff id="aff2"><institution>Division of Clinical Microbiology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</institution></nlm:aff></affiliation></author><author><name sortKey="Lenardo, Michael J" sort="Lenardo, Michael J" uniqKey="Lenardo M" first="Michael J." last="Lenardo">Michael J. Lenardo</name><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff10"><institution>Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</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="aff19"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff20"><institution>Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale U.1163, Necker Hospital for Sick Children, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff21"><institution>Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff22"><institution>Paris Descartes University, Imagine Institute, 75015 Paris, France</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff23"><institution>Howard Hughes Medical Institute, New York, NY 10065</institution></nlm:aff></affiliation></author><author><name sortKey="Hammarstrom, Lennart" sort="Hammarstrom, Lennart" uniqKey="Hammarstrom L" first="Lennart" last="Hammarström">Lennart Hammarström</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</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 NSW 2010, Australia</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff5"><institution>St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst NSW 2010, Australia</institution></nlm:aff></affiliation></author><author><name sortKey="Su, Helen C" sort="Su, Helen C" uniqKey="Su H" first="Helen C." last="Su">Helen C. Su</name><affiliation><nlm:aff id="aff8"><institution>Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation><affiliation><nlm:aff id="aff9"><institution>Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892</institution></nlm:aff></affiliation></author><author><name sortKey="Pan Hammarstrom, Qiang" sort="Pan Hammarstrom, Qiang" uniqKey="Pan Hammarstrom Q" first="Qiang" last="Pan-Hammarström">Qiang Pan-Hammarström</name><affiliation><nlm:aff id="aff1"><institution>Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden</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="2017">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Antigens, CD27 (physiology)</term><term>Antigens, CD70 (deficiency)</term><term>Antigens, CD70 (genetics)</term><term>B-Lymphocytes (immunology)</term><term>CD8-Positive T-Lymphocytes (immunology)</term><term>Child</term><term>Cytotoxicity, Immunologic</term><term>Epstein-Barr Virus Infections (complications)</term><term>Female</term><term>Herpesvirus 4, Human (immunology)</term><term>Hodgkin Disease (etiology)</term><term>Humans</term><term>Immunologic Deficiency Syndromes (complications)</term><term>Immunologic Memory</term><term>Male</term><term>Mutation</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Antigènes CD27 (physiologie)</term><term>Antigènes CD70 (déficit)</term><term>Antigènes CD70 (génétique)</term><term>Cytotoxicité immunologique</term><term>Déficits immunitaires ()</term><term>Enfant</term><term>Femelle</term><term>Herpèsvirus humain de type 4 (immunologie)</term><term>Humains</term><term>Infections à virus Epstein-Barr ()</term><term>Lymphocytes B (immunologie)</term><term>Lymphocytes T CD8+ (immunologie)</term><term>Maladie de Hodgkin (étiologie)</term><term>Mutation</term><term>Mâle</term><term>Mémoire immunologique</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Antigens, CD70</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Antigens, CD70</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Antigens, CD27</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Epstein-Barr Virus Infections</term><term>Immunologic Deficiency Syndromes</term></keywords><keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Antigènes CD70</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Hodgkin Disease</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Antigènes CD70</term></keywords><keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Herpèsvirus humain de type 4</term><term>Lymphocytes B</term><term>Lymphocytes T CD8+</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>B-Lymphocytes</term><term>CD8-Positive T-Lymphocytes</term><term>Herpesvirus 4, Human</term></keywords><keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Antigènes CD27</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Maladie de Hodgkin</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Cytotoxicity, Immunologic</term><term>Female</term><term>Humans</term><term>Immunologic Memory</term><term>Male</term><term>Mutation</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Cytotoxicité immunologique</term><term>Déficits immunitaires</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Infections à virus Epstein-Barr</term><term>Mutation</term><term>Mâle</term><term>Mémoire immunologique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Abolhassani et al. show that CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of CD27 deficiency. 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Mcelwee</name><name sortKey="Palendira, Umaimainthan" sort="Palendira, Umaimainthan" uniqKey="Palendira U" first="Umaimainthan" last="Palendira">Umaimainthan Palendira</name><name sortKey="Pan Hammarstrom, Qiang" sort="Pan Hammarstrom, Qiang" uniqKey="Pan Hammarstrom Q" first="Qiang" last="Pan-Hammarström">Qiang Pan-Hammarström</name><name sortKey="Price, David A" sort="Price, David A" uniqKey="Price D" first="David A." last="Price">David A. Price</name><name sortKey="Rezaei, Nima" sort="Rezaei, Nima" uniqKey="Rezaei N" first="Nima" last="Rezaei">Nima Rezaei</name><name sortKey="Romano, Rosa" sort="Romano, Rosa" uniqKey="Romano R" first="Rosa" last="Romano">Rosa Romano</name><name sortKey="Su, Helen C" sort="Su, Helen C" uniqKey="Su H" first="Helen C." last="Su">Helen C. Su</name><name sortKey="Tacyildiz, Nurdan" sort="Tacyildiz, Nurdan" uniqKey="Tacyildiz N" first="Nurdan" last="Tacyildiz">Nurdan Tacyildiz</name><name sortKey="Tangye, Stuart G" sort="Tangye, Stuart G" uniqKey="Tangye S" first="Stuart G." last="Tangye">Stuart G. Tangye</name><name sortKey="Zhang, Yu" sort="Zhang, Yu" uniqKey="Zhang Y" first="Yu" last="Zhang">Yu Zhang</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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