The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies
Identifieur interne : 000D45 ( Pmc/Corpus ); précédent : 000D44; suivant : 000D46The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies
Auteurs : Aziz Bousfiha ; Leïla Jeddane ; Waleed Al-Herz ; Fatima Ailal ; Jean-Laurent Casanova ; Talal Chatila ; Mary Ellen Conley ; Charlotte Cunningham-Rundles ; Amos Etzioni ; Jose Luis Franco ; H. Bobby Gaspar ; Steven M. Holland ; Christoph Klein ; Shigeaki Nonoyama ; Hans D. Ochs ; Eric Oksenhendler ; Capucine Picard ; Jennifer M. Puck ; Kathleen E. Sullivan ; Mimi L. K. TangSource :
- Journal of Clinical Immunology [ 0271-9142 ] ; 2015.
Abstract
There are now nearly 300 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. For each of these five categories, a growing variety of phenotypes are ascribed to Primary Immunodeficiency Diseases (PID), making PIDs a rapidly expanding field of medicine. The International Union of Immunological Societies (IUIS) PID expert committee (EC) has published every other year a classification of these disorders into tables, defined by shared pathogenesis and/or clinical consequences. In 2013, the IUIS committee also proposed a more user-friendly, phenotypic classification, based on the selection of key phenotypes at the bedside. We herein propose the revised figures, based on the accompanying 2015 IUIS PID EC classification.
Url:
DOI: 10.1007/s10875-015-0198-5
PubMed: 26445875
PubMed Central: 4659854
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies</title><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="Aff1">Clinical Immunology Unit, A. Harouchi Hospital, Ibn Roshd Medical School, King Hassan II University, Casablanca, Morocco</nlm:aff></affiliation></author><author><name sortKey="Jeddane, Leila" sort="Jeddane, Leila" uniqKey="Jeddane L" first="Leïla" last="Jeddane">Leïla Jeddane</name><affiliation><nlm:aff id="Aff1">Clinical Immunology Unit, A. Harouchi Hospital, Ibn Roshd Medical School, King Hassan II University, Casablanca, Morocco</nlm:aff></affiliation></author><author><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name><affiliation><nlm:aff id="Aff2">Department of Pediatrics, Faculty of Medicine Kuwait University, Jabriya, Kuwait</nlm:aff></affiliation><affiliation><nlm:aff id="Aff3">Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait</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="Aff1">Clinical Immunology Unit, A. Harouchi Hospital, Ibn Roshd Medical School, King Hassan II University, Casablanca, Morocco</nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Aurent" sort="Casanova, Jean Aurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="Aff4">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5">Howard Hughes Medical Institute, New York, NY USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff6">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff7">Imagine Institute, University Paris Descartes, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff8">Pediatric Hematology & Immunology Unit, Necker Hospital for Sick Children, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name><affiliation><nlm:aff id="Aff9">Division of Immunology, Children’s Hospital Boston, Boston, MA USA</nlm:aff></affiliation></author><author><name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name><affiliation><nlm:aff id="Aff4">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Cunningham Undles, Charlotte" sort="Cunningham Undles, Charlotte" uniqKey="Cunningham Undles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name><affiliation><nlm:aff id="Aff10">Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name><affiliation><nlm:aff id="Aff11">Meyer Children’s Hospital‐Technion, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Franco, Jose Luis" sort="Franco, Jose Luis" uniqKey="Franco J" first="Jose Luis" last="Franco">Jose Luis Franco</name><affiliation><nlm:aff id="Aff12">Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia</nlm:aff></affiliation></author><author><name sortKey="Gaspar, H Bobby" sort="Gaspar, H Bobby" uniqKey="Gaspar H" first="H. Bobby" last="Gaspar">H. Bobby Gaspar</name><affiliation><nlm:aff id="Aff13">UCL Institute of Child Health, London, UK</nlm:aff></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation><nlm:aff id="Aff14">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD USA</nlm:aff></affiliation></author><author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name><affiliation><nlm:aff id="Aff15">Dr von Hauner Children’s Hospital, Ludwig‐Maximilians University Munich, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><affiliation><nlm:aff id="Aff16">Department of Pediatrics, National Defense Medical College, Saitama, Japan</nlm:aff></affiliation></author><author><name sortKey="Ochs, Hans D" sort="Ochs, Hans D" uniqKey="Ochs H" first="Hans D." last="Ochs">Hans D. Ochs</name><affiliation><nlm:aff id="Aff17">Department of Pediatrics, University of Washington and Seattle Children’s Research Institute, Seattle, WA USA</nlm:aff></affiliation></author><author><name sortKey="Oksenhendler, Eric" sort="Oksenhendler, Eric" uniqKey="Oksenhendler E" first="Eric" last="Oksenhendler">Eric Oksenhendler</name><affiliation><nlm:aff id="Aff18">Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique‐Hôpitaux de Paris, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19">Université Paris Diderot, Sorbonne Paris Cité, Paris, France</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="Aff5">Howard Hughes Medical Institute, New York, NY USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff20">Centre d’étude des déficits immunitaires (CEDI), Hôpital Necker‐Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name><affiliation><nlm:aff id="Aff21">Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital, San Francisco, CA USA</nlm:aff></affiliation></author><author><name sortKey="Sullivan, Kathleen E" sort="Sullivan, Kathleen E" uniqKey="Sullivan K" first="Kathleen E." last="Sullivan">Kathleen E. Sullivan</name><affiliation><nlm:aff id="Aff22">Division of Allergy Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA USA</nlm:aff></affiliation></author><author><name sortKey="Tang, Mimi L K" sort="Tang, Mimi L K" uniqKey="Tang M" first="Mimi L. K." last="Tang">Mimi L. K. Tang</name><affiliation><nlm:aff id="Aff23">Murdoch Childrens Research Institute, Melbourne, VIC Australia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff24">Department of Paediatrics, University of Melbourne, Melbourne, VIC Australia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff25">Department of Allergy and Immunology, Royal Children’s Hospital, Melbourne, VIC Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26445875</idno><idno type="pmc">4659854</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659854</idno><idno type="RBID">PMC:4659854</idno><idno type="doi">10.1007/s10875-015-0198-5</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000D45</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000D45</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies</title><author><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name><affiliation><nlm:aff id="Aff1">Clinical Immunology Unit, A. Harouchi Hospital, Ibn Roshd Medical School, King Hassan II University, Casablanca, Morocco</nlm:aff></affiliation></author><author><name sortKey="Jeddane, Leila" sort="Jeddane, Leila" uniqKey="Jeddane L" first="Leïla" last="Jeddane">Leïla Jeddane</name><affiliation><nlm:aff id="Aff1">Clinical Immunology Unit, A. Harouchi Hospital, Ibn Roshd Medical School, King Hassan II University, Casablanca, Morocco</nlm:aff></affiliation></author><author><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name><affiliation><nlm:aff id="Aff2">Department of Pediatrics, Faculty of Medicine Kuwait University, Jabriya, Kuwait</nlm:aff></affiliation><affiliation><nlm:aff id="Aff3">Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait</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="Aff1">Clinical Immunology Unit, A. Harouchi Hospital, Ibn Roshd Medical School, King Hassan II University, Casablanca, Morocco</nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Aurent" sort="Casanova, Jean Aurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="Aff4">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff5">Howard Hughes Medical Institute, New York, NY USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff6">Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff7">Imagine Institute, University Paris Descartes, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff8">Pediatric Hematology & Immunology Unit, Necker Hospital for Sick Children, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name><affiliation><nlm:aff id="Aff9">Division of Immunology, Children’s Hospital Boston, Boston, MA USA</nlm:aff></affiliation></author><author><name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name><affiliation><nlm:aff id="Aff4">St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Cunningham Undles, Charlotte" sort="Cunningham Undles, Charlotte" uniqKey="Cunningham Undles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name><affiliation><nlm:aff id="Aff10">Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY USA</nlm:aff></affiliation></author><author><name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name><affiliation><nlm:aff id="Aff11">Meyer Children’s Hospital‐Technion, Haifa, Israel</nlm:aff></affiliation></author><author><name sortKey="Franco, Jose Luis" sort="Franco, Jose Luis" uniqKey="Franco J" first="Jose Luis" last="Franco">Jose Luis Franco</name><affiliation><nlm:aff id="Aff12">Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia</nlm:aff></affiliation></author><author><name sortKey="Gaspar, H Bobby" sort="Gaspar, H Bobby" uniqKey="Gaspar H" first="H. Bobby" last="Gaspar">H. Bobby Gaspar</name><affiliation><nlm:aff id="Aff13">UCL Institute of Child Health, London, UK</nlm:aff></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation><nlm:aff id="Aff14">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD USA</nlm:aff></affiliation></author><author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name><affiliation><nlm:aff id="Aff15">Dr von Hauner Children’s Hospital, Ludwig‐Maximilians University Munich, Munich, Germany</nlm:aff></affiliation></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><affiliation><nlm:aff id="Aff16">Department of Pediatrics, National Defense Medical College, Saitama, Japan</nlm:aff></affiliation></author><author><name sortKey="Ochs, Hans D" sort="Ochs, Hans D" uniqKey="Ochs H" first="Hans D." last="Ochs">Hans D. Ochs</name><affiliation><nlm:aff id="Aff17">Department of Pediatrics, University of Washington and Seattle Children’s Research Institute, Seattle, WA USA</nlm:aff></affiliation></author><author><name sortKey="Oksenhendler, Eric" sort="Oksenhendler, Eric" uniqKey="Oksenhendler E" first="Eric" last="Oksenhendler">Eric Oksenhendler</name><affiliation><nlm:aff id="Aff18">Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique‐Hôpitaux de Paris, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="Aff19">Université Paris Diderot, Sorbonne Paris Cité, Paris, France</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="Aff5">Howard Hughes Medical Institute, New York, NY USA</nlm:aff></affiliation><affiliation><nlm:aff id="Aff20">Centre d’étude des déficits immunitaires (CEDI), Hôpital Necker‐Enfants Malades, AP-HP, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name><affiliation><nlm:aff id="Aff21">Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital, San Francisco, CA USA</nlm:aff></affiliation></author><author><name sortKey="Sullivan, Kathleen E" sort="Sullivan, Kathleen E" uniqKey="Sullivan K" first="Kathleen E." last="Sullivan">Kathleen E. Sullivan</name><affiliation><nlm:aff id="Aff22">Division of Allergy Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA USA</nlm:aff></affiliation></author><author><name sortKey="Tang, Mimi L K" sort="Tang, Mimi L K" uniqKey="Tang M" first="Mimi L. K." last="Tang">Mimi L. K. Tang</name><affiliation><nlm:aff id="Aff23">Murdoch Childrens Research Institute, Melbourne, VIC Australia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff24">Department of Paediatrics, University of Melbourne, Melbourne, VIC Australia</nlm:aff></affiliation><affiliation><nlm:aff id="Aff25">Department of Allergy and Immunology, Royal Children’s Hospital, Melbourne, VIC Australia</nlm:aff></affiliation></author></analytic><series><title level="j">Journal of Clinical Immunology</title><idno type="ISSN">0271-9142</idno><idno type="eISSN">1573-2592</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>There are now nearly 300 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. For each of these five categories, a growing variety of phenotypes are ascribed to Primary Immunodeficiency Diseases (PID), making PIDs a rapidly expanding field of medicine. The International Union of Immunological Societies (IUIS) PID expert committee (EC) has published every other year a classification of these disorders into tables, defined by shared pathogenesis and/or clinical consequences. In 2013, the IUIS committee also proposed a more user-friendly, phenotypic classification, based on the selection of key phenotypes at the bedside. We herein propose the revised figures, based on the accompanying 2015 IUIS PID EC classification.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Bousfiha, Aa" uniqKey="Bousfiha A">AA Bousfiha</name></author><author><name sortKey="Jeddane, L" uniqKey="Jeddane L">L Jeddane</name></author><author><name sortKey="Ailal, F" uniqKey="Ailal F">F Ailal</name></author><author><name sortKey="Benhsaien, I" uniqKey="Benhsaien I">I Benhsaien</name></author><author><name sortKey="Mahlaoui, N" uniqKey="Mahlaoui N">N Mahlaoui</name></author><author><name sortKey="Casanova, Jl" uniqKey="Casanova J">JL Casanova</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ciancanelli, Mj" uniqKey="Ciancanelli M">MJ Ciancanelli</name></author><author><name sortKey="Huang, Sx" uniqKey="Huang S">SX Huang</name></author><author><name sortKey="Luthra, P" uniqKey="Luthra P">P Luthra</name></author><author><name sortKey="Garner, H" uniqKey="Garner H">H Garner</name></author><author><name sortKey="Itan, Y" uniqKey="Itan Y">Y Itan</name></author><author><name sortKey="Volpi, S" uniqKey="Volpi S">S Volpi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Troedson, C" uniqKey="Troedson C">C Troedson</name></author><author><name sortKey="Wong, M" uniqKey="Wong M">M Wong</name></author><author><name sortKey="Dalby Payne, J" uniqKey="Dalby Payne J">J Dalby-Payne</name></author><author><name sortKey="Wilson, M" uniqKey="Wilson M">M Wilson</name></author><author><name sortKey="Dexter, M" uniqKey="Dexter M">M Dexter</name></author><author><name sortKey="Rice, Gi" uniqKey="Rice G">GI Rice</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Sewell, Gw" uniqKey="Sewell G">GW Sewell</name></author><author><name sortKey="Rahman, Fz" uniqKey="Rahman F">FZ Rahman</name></author><author><name sortKey="Levine, Ap" uniqKey="Levine A">AP Levine</name></author><author><name sortKey="Jostins, L" uniqKey="Jostins L">L Jostins</name></author><author><name sortKey="Smith, Pj" uniqKey="Smith P">PJ Smith</name></author><author><name sortKey="Walker, Ap" uniqKey="Walker A">AP Walker</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bousfiha, Aa" uniqKey="Bousfiha A">AA Bousfiha</name></author><author><name sortKey="Jeddane, L" uniqKey="Jeddane L">L Jeddane</name></author><author><name sortKey="Ailal, F" uniqKey="Ailal F">F Ailal</name></author><author><name sortKey="Al Herz, W" uniqKey="Al Herz W">W Al Herz</name></author><author><name sortKey="Conley, Me" uniqKey="Conley M">ME Conley</name></author><author><name sortKey="Cunningham Rundles, C" uniqKey="Cunningham Rundles C">C Cunningham-Rundles</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Ochs, Hd" uniqKey="Ochs H">HD Ochs</name></author><author><name sortKey="Hagin, D" uniqKey="Hagin D">D Hagin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Federici, S" uniqKey="Federici S">S Federici</name></author><author><name sortKey="Martini, A" uniqKey="Martini A">A Martini</name></author><author><name sortKey="Gattorno, M" uniqKey="Gattorno M">M Gattorno</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Modell, V" uniqKey="Modell V">V Modell</name></author><author><name sortKey="Knaus, M" uniqKey="Knaus M">M Knaus</name></author><author><name sortKey="Modell, F" uniqKey="Modell F">F Modell</name></author><author><name sortKey="Roifman, C" uniqKey="Roifman C">C Roifman</name></author><author><name sortKey="Orange, J" uniqKey="Orange J">J Orange</name></author><author><name sortKey="Notarangelo, Ld" uniqKey="Notarangelo L">LD Notarangelo</name></author></analytic></biblStruct><biblStruct></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Clin Immunol</journal-id><journal-id journal-id-type="iso-abbrev">J. Clin. Immunol</journal-id><journal-title-group><journal-title>Journal of Clinical Immunology</journal-title></journal-title-group><issn pub-type="ppub">0271-9142</issn><issn pub-type="epub">1573-2592</issn><publisher><publisher-name>Springer US</publisher-name><publisher-loc>New York</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26445875</article-id><article-id pub-id-type="pmc">4659854</article-id><article-id pub-id-type="publisher-id">198</article-id><article-id pub-id-type="doi">10.1007/s10875-015-0198-5</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original Research</subject></subj-group></article-categories><title-group><article-title>The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Bousfiha</surname><given-names>Aziz</given-names></name><address><email>profbousfiha@gmail.com</email></address><xref ref-type="aff" rid="Aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Jeddane</surname><given-names>Leïla</given-names></name><xref ref-type="aff" rid="Aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Al-Herz</surname><given-names>Waleed</given-names></name><xref ref-type="aff" rid="Aff2"></xref><xref ref-type="aff" rid="Aff3"></xref></contrib><contrib contrib-type="author"><name><surname>Ailal</surname><given-names>Fatima</given-names></name><xref ref-type="aff" rid="Aff1"></xref></contrib><contrib contrib-type="author"><name><surname>Casanova</surname><given-names>Jean‐Laurent</given-names></name><xref ref-type="aff" rid="Aff4"></xref><xref ref-type="aff" rid="Aff5"></xref><xref ref-type="aff" rid="Aff6"></xref><xref ref-type="aff" rid="Aff7"></xref><xref ref-type="aff" rid="Aff8"></xref></contrib><contrib contrib-type="author"><name><surname>Chatila</surname><given-names>Talal</given-names></name><xref ref-type="aff" rid="Aff9"></xref></contrib><contrib contrib-type="author"><name><surname>Conley</surname><given-names>Mary Ellen</given-names></name><xref ref-type="aff" rid="Aff4"></xref></contrib><contrib contrib-type="author"><name><surname>Cunningham‐Rundles</surname><given-names>Charlotte</given-names></name><xref ref-type="aff" rid="Aff10"></xref></contrib><contrib contrib-type="author"><name><surname>Etzioni</surname><given-names>Amos</given-names></name><xref ref-type="aff" rid="Aff11"></xref></contrib><contrib contrib-type="author"><name><surname>Franco</surname><given-names>Jose Luis</given-names></name><xref ref-type="aff" rid="Aff12"></xref></contrib><contrib contrib-type="author"><name><surname>Gaspar</surname><given-names>H. Bobby</given-names></name><xref ref-type="aff" rid="Aff13"></xref></contrib><contrib contrib-type="author"><name><surname>Holland</surname><given-names>Steven M.</given-names></name><xref ref-type="aff" rid="Aff14"></xref></contrib><contrib contrib-type="author"><name><surname>Klein</surname><given-names>Christoph</given-names></name><xref ref-type="aff" rid="Aff15"></xref></contrib><contrib contrib-type="author"><name><surname>Nonoyama</surname><given-names>Shigeaki</given-names></name><xref ref-type="aff" rid="Aff16"></xref></contrib><contrib contrib-type="author"><name><surname>Ochs</surname><given-names>Hans D.</given-names></name><xref ref-type="aff" rid="Aff17"></xref></contrib><contrib contrib-type="author"><name><surname>Oksenhendler</surname><given-names>Eric</given-names></name><xref ref-type="aff" rid="Aff18"></xref><xref ref-type="aff" rid="Aff19"></xref></contrib><contrib contrib-type="author"><name><surname>Picard</surname><given-names>Capucine</given-names></name><xref ref-type="aff" rid="Aff5"></xref><xref ref-type="aff" rid="Aff20"></xref></contrib><contrib contrib-type="author"><name><surname>Puck</surname><given-names>Jennifer M.</given-names></name><xref ref-type="aff" rid="Aff21"></xref></contrib><contrib contrib-type="author"><name><surname>Sullivan</surname><given-names>Kathleen E.</given-names></name><xref ref-type="aff" rid="Aff22"></xref></contrib><contrib contrib-type="author"><name><surname>Tang</surname><given-names>Mimi L. K.</given-names></name><xref ref-type="aff" rid="Aff23"></xref><xref ref-type="aff" rid="Aff24"></xref><xref ref-type="aff" rid="Aff25"></xref></contrib><aff id="Aff1"><label></label>Clinical Immunology Unit, A. Harouchi Hospital, Ibn Roshd Medical School, King Hassan II University, Casablanca, Morocco</aff><aff id="Aff2"><label></label>Department of Pediatrics, Faculty of Medicine Kuwait University, Jabriya, Kuwait</aff><aff id="Aff3"><label></label>Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait</aff><aff id="Aff4"><label></label>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY USA</aff><aff id="Aff5"><label></label>Howard Hughes Medical Institute, New York, NY USA</aff><aff id="Aff6"><label></label>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France</aff><aff id="Aff7"><label></label>Imagine Institute, University Paris Descartes, Paris, France</aff><aff id="Aff8"><label></label>Pediatric Hematology & Immunology Unit, Necker Hospital for Sick Children, Paris, France</aff><aff id="Aff9"><label></label>Division of Immunology, Children’s Hospital Boston, Boston, MA USA</aff><aff id="Aff10"><label></label>Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY USA</aff><aff id="Aff11"><label></label>Meyer Children’s Hospital‐Technion, Haifa, Israel</aff><aff id="Aff12"><label></label>Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia</aff><aff id="Aff13"><label></label>UCL Institute of Child Health, London, UK</aff><aff id="Aff14"><label></label>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD USA</aff><aff id="Aff15"><label></label>Dr von Hauner Children’s Hospital, Ludwig‐Maximilians University Munich, Munich, Germany</aff><aff id="Aff16"><label></label>Department of Pediatrics, National Defense Medical College, Saitama, Japan</aff><aff id="Aff17"><label></label>Department of Pediatrics, University of Washington and Seattle Children’s Research Institute, Seattle, WA USA</aff><aff id="Aff18"><label></label>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique‐Hôpitaux de Paris, Paris, France</aff><aff id="Aff19"><label></label>Université Paris Diderot, Sorbonne Paris Cité, Paris, France</aff><aff id="Aff20"><label></label>Centre d’étude des déficits immunitaires (CEDI), Hôpital Necker‐Enfants Malades, AP-HP, Paris, France</aff><aff id="Aff21"><label></label>Department of Pediatrics, University of California San Francisco and UCSF Benioff Children’s Hospital, San Francisco, CA USA</aff><aff id="Aff22"><label></label>Division of Allergy Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA USA</aff><aff id="Aff23"><label></label>Murdoch Childrens Research Institute, Melbourne, VIC Australia</aff><aff id="Aff24"><label></label>Department of Paediatrics, University of Melbourne, Melbourne, VIC Australia</aff><aff id="Aff25"><label></label>Department of Allergy and Immunology, Royal Children’s Hospital, Melbourne, VIC Australia</aff></contrib-group><pub-date pub-type="epub"><day>7</day><month>10</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>7</day><month>10</month><year>2015</year></pub-date><pub-date pub-type="ppub"><year>2015</year></pub-date><volume>35</volume><issue>8</issue><fpage>727</fpage><lpage>738</lpage><history><date date-type="received"><day>11</day><month>8</month><year>2015</year></date><date date-type="accepted"><day>16</day><month>9</month><year>2015</year></date></history><permissions><copyright-statement>© Springer Science+Business Media New York 2015</copyright-statement></permissions><abstract id="Abs1"><p>There are now nearly 300 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. For each of these five categories, a growing variety of phenotypes are ascribed to Primary Immunodeficiency Diseases (PID), making PIDs a rapidly expanding field of medicine. The International Union of Immunological Societies (IUIS) PID expert committee (EC) has published every other year a classification of these disorders into tables, defined by shared pathogenesis and/or clinical consequences. In 2013, the IUIS committee also proposed a more user-friendly, phenotypic classification, based on the selection of key phenotypes at the bedside. We herein propose the revised figures, based on the accompanying 2015 IUIS PID EC classification.</p></abstract><kwd-group xml:lang="en"><title>Keywords</title><kwd>Primary immunodeficiencies</kwd><kwd>classification</kwd><kwd>IUIS PID expert committee</kwd></kwd-group><custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name><meta-value>© Springer Science+Business Media New York 2015</meta-value></custom-meta></custom-meta-group></article-meta></front><body><sec id="Sec1" sec-type="introduction"><title>Introduction</title><p>Human Primary Immunodeficiency Diseases (PID) comprise at least 300 genetically-defined single-gene inborn errors of immunity [<xref ref-type="bibr" rid="CR1">1</xref>]. Long considered as rare diseases, recent studies tend to show that they are more common than generally thought, if only by their rapidly increasing number [<xref ref-type="bibr" rid="CR2">2</xref>]. They may be even more common, if we consider the emerging monogenic determinants leading to common infectious diseases, such as severe influenza [<xref ref-type="bibr" rid="CR3">3</xref>]; autoimmune diseases, such as systemic lupus erythematosus [<xref ref-type="bibr" rid="CR4">4</xref>], and auto-inflammatory diseases, such as Crohn’s disease [<xref ref-type="bibr" rid="CR5">5</xref>]. The International Union of Immunological Societies (IUIS) PID expert committee has proposed a PID classification [<xref ref-type="bibr" rid="CR1">1</xref>], which facilitates clinical research and comparative studies world-wide; it is updated every other year to include new disorders or disease-causing genes. This classification is organized in tables, each of which groups PIDs that share a given pathogenesis. As this classification may be cumbersome for use by the clinician at the bedside, the IUIS PID expert committee recently proposed a phenotypic complement to its classification [<xref ref-type="bibr" rid="CR6">6</xref>]. As the number of PIDs is quickly increasing, and at an even faster pace since the advent of next-generation sequencing, the phenotypic classification from 2013 became outdated and requires revision at the same pace as the classical IUIS classification. Our original phenotypic classification proved successful, which placed it in the 96th percentile for citation rank in Springer journals [<xref ref-type="bibr" rid="CR7">7</xref>]. Given the success of our user-friendly classification of PIDs, providing a tree-based decision-making process based on the observation of clinical and biological phenotypes, we present here an update of these figures, based on the accompanying 2015 PID classification.</p></sec><sec id="Sec2" sec-type="materials|methods"><title>Methodology</title><p>We included all diseases included in the 2015 update of the IUIS PID classification [<xref ref-type="bibr" rid="CR1">1</xref>], keeping the nine major categories unchanged. In addition, we considered other articles proposing a PID classification published recently [<xref ref-type="bibr" rid="CR8">8</xref>, <xref ref-type="bibr" rid="CR9">9</xref>]. An algorithm was assigned to each of the nine main groups of the classification and the same color was used for each group of similar conditions. Disease names are presented in red and genes in bold. In addition, we classed diseases or genes from most common to less common, at the best of our knowledge [<xref ref-type="bibr" rid="CR10">10</xref>, <xref ref-type="bibr" rid="CR11">11</xref>]. These algorithms were first established by a small committee; then validated by one or two experts for each figure.</p></sec><sec id="Sec3" sec-type="results"><title>Results</title><p>An update of our classification, validated by the IUIS PID expert committee, is presented in Figs. <xref rid="Fig1" ref-type="fig">1</xref>, <xref rid="Fig2" ref-type="fig">2</xref>, <xref rid="Fig3" ref-type="fig">3</xref>, <xref rid="Fig4" ref-type="fig">4</xref>, <xref rid="Fig5" ref-type="fig">5</xref>, <xref rid="Fig6" ref-type="fig">6</xref>, <xref rid="Fig7" ref-type="fig">7</xref>, <xref rid="Fig8" ref-type="fig">8</xref> and <xref rid="Fig9" ref-type="fig">9</xref>.<fig id="Fig1"><label>Fig. 1</label><caption><p>Immunodeficiencies affecting cellular and humoral immunity. <italic>ADA</italic> Adenosine Deaminase, <italic>Adp</italic> adenopathy, <italic>AR</italic> Autosomal Recessive inheritance, <italic>CBC</italic> Complete Blood Count, <italic>CD</italic> Cluster of Differentiation, <italic>CID</italic> Combined Immunodeficiency, <italic>EBV</italic> Epstein-Barr Virus, <italic>EO</italic> Eosinophils, <italic>HHV8</italic> Human Herpes virus type 8, <italic>HIGM</italic> Hyper IgM syndrome, <italic>HLA</italic> Human Leukocyte Antigen, <italic>HSM</italic> Hepatosplenomegaly, <italic>HPV</italic> Human papilloma virus, <italic>IBD</italic> Inflammatory bowel disease, <italic>Ig</italic> Immunoglobulin, <italic>MC</italic> Molluscum contagiosum, <italic>N</italic> Normal, not low, <italic>NK</italic> Natural Killer, <italic>NN</italic> Neonatal, <italic>NP</italic> Neutropenia, <italic>SCID</italic> Severe Combined ImmunoDeficiency, <italic>Staph Staphylococcus sp.</italic>, <italic>TCR</italic> T-Cell Receptor, <italic>XL</italic> X-Linked</p></caption><graphic xlink:href="10875_2015_198_Fig1_HTML" id="MO1"></graphic></fig><fig id="Fig2"><label>Fig. 2</label><caption><p>CID with associated or syndromic features. These syndromes are generally associated with T-cell immunodeficiency. <italic>αFP</italic> alpha- fetoprotein, <italic>AD</italic> Autosomal Dominant inheritance, <italic>AR</italic> Autosomal Recessive inheritance, <italic>CMF</italic> Flow cytometry available, <italic>EDA</italic> Anhidrotic ectodermal dysplasia, <italic>EDA-ID</italic> Anhidrotic Ectodermal Dysplasia with Immunodeficiency, <italic>FILS</italic> Facial dysmorphism, immunodeficiency, livedo, and short stature, <italic>FISH</italic> Fluorescence in situ Hybridization, <italic>HSM</italic> Hepatosplenomegaly, <italic>HSV</italic> Herpes simplex virus, <italic>Ig</italic> Immunoglobulin, <italic>VZV</italic> Varicella Zoster virus, <italic>WAS</italic> Wiskott-Aldrich syndrome, <italic>XL</italic> X-Linked inheritance</p></caption><graphic xlink:href="10875_2015_198_Fig2_HTML" id="MO2"></graphic></fig><fig id="Fig3"><label>Fig. 3</label><caption><p>Predominantly Antibody deficiencies. <italic>Ab</italic> Antibody, <italic>Adp</italic> adenopathy, <italic>Anti PPS</italic> Anti- pneumococcus Antibody, <italic>AR</italic> Autosomal Recessive inheritance, <italic>CD</italic> Cluster of Differentiation, <italic>CDG-IIb</italic> Congenital disorder of glycosylation, type IIb, <italic>CMV</italic> Cytomegalovirus, <italic>CT</italic> Computed Tomography, <italic>EBV</italic> Epstein-Barr Virus, <italic>Dip</italic> Diphtheria, <italic>GI</italic> Gastrointestinal, <italic>Hib Haemophilus influenzae</italic> serotype b, <italic>Hx</italic> medical history, <italic>Ig</italic> Immunoglobulin, <italic>SPM</italic> Splenomegaly, <italic>subcl</italic> subclass, <italic>Tet</italic> Tetanus, <italic>XL</italic> X-Linked inheritance</p></caption><graphic xlink:href="10875_2015_198_Fig3_HTML" id="MO3"></graphic></fig><fig id="Fig4"><label>Fig. 4</label><caption><p>Diseases of Immune Dysregulation. <italic>AD</italic> Autosomal Dominant inheritance, <italic>ALPS</italic> Autoimmune lymphoproliferative syndrome, <italic>AR</italic> Autosomal Recessive inheritance, <italic>CD</italic> Cluster of Differentiation, <italic>CMF</italic> Flow cytometry available, <italic>CSF</italic> Cerebrospinal fluid, <italic>CTL</italic> Cytotoxic T-Lymphocyte, <italic>EBV</italic> Epstein-Barr Virus, <italic>GOF</italic> Gain-of-function, <italic>HLH</italic> Hemophagocytic lymphohistiocytosis, <italic>HSM</italic> Hepatosplenomegaly, <italic>IBD</italic> Inflammatory bowel disease, <italic>IFNγ</italic> Interferon gamma, <italic>Ig</italic> Immunoglobulin, <italic>IL</italic> interleukin, <italic>Inflam</italic> Inflammation, <italic>NK</italic> Natural Killer, <italic>NKT</italic> Natural Killer T cell, <italic>T</italic> T lymphocyte, <italic>XL</italic> X-Linked inheritance</p></caption><graphic xlink:href="10875_2015_198_Fig4_HTML" id="MO4"></graphic></fig><fig id="Fig5"><label>Fig. 5</label><caption><p>Congenital defects of phagocyte number, function, or both. For DHR assay, the results can distinct XL-CGD from AR-CGD, and gp40phox defect from others AR forms. <italic>AD</italic> Autosomal Dominant inheritance, <italic>AML</italic> Acute Myeloid Leukemia, <italic>AR</italic> Autosomal Recessive inheritance, <italic>BCG</italic> Bacilli Calmette-Guérin, <italic>CBC</italic> Complete Blood Count, <italic>CD</italic> Cluster of Differentiation, <italic>CGD</italic> Chronic Granulomatous Disease, <italic>CMML</italic> Chronic MyeloMonocytic Leukemia, <italic>DHR</italic> DiHydroRhodamine, <italic>IUGR</italic> Intrauterine growth retard, <italic>LAD</italic> Leukocyte Adhesion Deficiency, <italic>NP</italic> Neutropenia, <italic>PNN</italic> Neutrophils, <italic>SCN</italic> Severe congenital neutropenia, <italic>WBC</italic> White Blood Cells, <italic>XL</italic> X-Linked inheritance</p></caption><graphic xlink:href="10875_2015_198_Fig5_HTML" id="MO5"></graphic></fig><fig id="Fig6"><label>Fig. 6</label><caption><p>Defects in Intrinsec and Innate Immunity. <italic>AD</italic> Autosomal Dominant inheritance, <italic>AR</italic> Autosomal Recessive inheritance, <italic>BCG</italic> Bacilli Calmette-Guérin, <italic>BL</italic> B lymphocyte, <italic>CMC</italic> Chronic mucocutaneous candidiasis, <italic>HSV</italic> Herpes simplex virus, <italic>IFNγ</italic> Interferon gamma, <italic>Ig</italic> Immunoglobulin, <italic>IL</italic> interleukin, <italic>LOF</italic> Loss-of-function, <italic>MSMD</italic> Mendelian Susceptibility to Mycobacterial Disease, <italic>PMN</italic> Neutrophils, <italic>XL</italic> X-Linked inheritance</p></caption><graphic xlink:href="10875_2015_198_Fig6_HTML" id="MO6"></graphic></fig><fig id="Fig7"><label>Fig. 7</label><caption><p>Autoinflammatory Disorders. <italic>AD</italic> Autosomal Dominant inheritance, <italic>AR</italic> Autosomal Recessive inheritance, <italic>CAMPS</italic> CARD14 mediated psoriasis, <italic>CANDLE</italic> Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, <italic>CAPS</italic> Cryopyrin-Associated Periodic syndromes, <italic>CINCA</italic> Chronic Infantile Neurologic Cutaneous and Articular syndrome, <italic>DA</italic> Duration of Attacks, <italic>DITRA</italic> deficiency of interleukin 36 Receptor antagonist, <italic>FA</italic> Frequency of Attacks, <italic>HIDS</italic> Hyper IgD syndrome, <italic>Ig</italic> Immunoglobulin, <italic>IL</italic> interleukin, <italic>MKD</italic> Mevalonate Kinase deficiency, <italic>MWS</italic> Muckle-Wells syndrome, <italic>NOMID</italic> Neonatal Onset Multisystem Inflammatory Disease, <italic>PAPA</italic> Pyogenic sterile Arthritis, Pyoderma gangrenosum, Acne syndrome, <italic>SPM</italic> Splenomegaly, <italic>TNF</italic> Tumor Necrosis Factor, <italic>TRAPS</italic> TNF Receptor-Associated Periodic Syndrome</p></caption><graphic xlink:href="10875_2015_198_Fig7_HTML" id="MO7"></graphic></fig><fig id="Fig8"><label>Fig. 8</label><caption><p>Complement deficiencies. <italic>AD</italic> Autosomal Dominant inheritance, <italic>GOF</italic> Gain-of-function, <italic>LOF</italic> Loss-of-function, <italic>LAD</italic> Leukocyte Adhesion Deficiency, <italic>SLE</italic> Systemic Lupus Erythematosus</p></caption><graphic xlink:href="10875_2015_198_Fig8_HTML" id="MO8"></graphic></fig><fig id="Fig9"><label>Fig. 9</label><caption><p>Phenocopies of primary immunodeficiencies. <italic>Ab</italic> Antibody, <italic>ALPS</italic> Autoimmune lymphoproliferative syndrome, <italic>CMC</italic> Chronic mucocutaneous candidiasis, <italic>CID</italic> Combined Immunodeficiency, <italic>HUS</italic> Hemolytic uremic syndrome, <italic>IFNγ</italic> Interferon gamma, <italic>IL</italic> Interleukin, <italic>MSMD</italic> Mendelian Susceptibility to Mycobacteria Disease, <italic>VZV</italic> Varicella Zoster virus</p></caption><graphic xlink:href="10875_2015_198_Fig9_HTML" id="MO9"></graphic></fig></p></sec><sec id="Sec4" sec-type="discussion"><title>Discussion</title><p>Since our 2013 study, 70 new diseases have been included in the 2015 classification. Four disorders have been removed, as the reports concerning associated immunodeficiency or genetic base were not confirmed. We also eliminated duplication of a disease in more than one figure and profoundly revised some figures, following the 2015 IUIS classification.</p></sec><sec id="Sec5" sec-type="conclusion"><title>Conclusion</title><p>The IUIS PID expert committee developed this phenotypic classification in order to help clinicians at the bedside to diagnose PIDs but also to promote collaboration with national and international research centers. Needless to say, the expert committee encourages the development of other types of PID classification. Indeed, given the success encountered by the two current IUIS classifications, others classifications are likely to be useful and complementary.</p></sec></body><back><glossary><title>Abbreviations</title><def-list><def-item><term>αFP</term><def><p>Alpha- fetoprotein</p></def></def-item><def-item><term>Ab</term><def><p>Antibody</p></def></def-item><def-item><term>AD</term><def><p>Autosomal dominant inheritance</p></def></def-item><def-item><term>ADA</term><def><p>Adenosine deaminase</p></def></def-item><def-item><term>Adp</term><def><p>Adenopathy</p></def></def-item><def-item><term>ALPS</term><def><p>Autoimmune lymphoproliferative syndrome</p></def></def-item><def-item><term>AML</term><def><p>Acute myeloid leukemia</p></def></def-item><def-item><term>Anti PPS</term><def><p>Anti- pneumococcus antibody</p></def></def-item><def-item><term>AR</term><def><p>Autosomal recessive inheritance</p></def></def-item><def-item><term>BCG</term><def><p>Bacilli Calmette-Guerin</p></def></def-item><def-item><term>BL</term><def><p>B lymphocyte</p></def></def-item><def-item><term>CAMPS</term><def><p>CARD14 mediated psoriasis</p></def></def-item><def-item><term>CANDLE</term><def><p>Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome</p></def></def-item><def-item><term>CAPS</term><def><p>Cryopyrin-associated periodic syndromes</p></def></def-item><def-item><term>CBC</term><def><p>Complete blood count</p></def></def-item><def-item><term>CD</term><def><p>Cluster of differentiation</p></def></def-item><def-item><term>CDG-IIb</term><def><p>Congenital disorder of glycosylation, type IIb</p></def></def-item><def-item><term>CGD</term><def><p>Chronic granulomatous disease</p></def></def-item><def-item><term>CID</term><def><p>Combined immunodeficiency</p></def></def-item><def-item><term>CINCA</term><def><p>Chronic infantile neurologic cutaneous and articular syndrome</p></def></def-item><def-item><term>CMC</term><def><p>Chronic mucocutaneous candidiasis</p></def></def-item><def-item><term>CMF</term><def><p>Flow cytometry available</p></def></def-item><def-item><term>CMV</term><def><p>Cytomegalovirus</p></def></def-item><def-item><term>CMML</term><def><p>Chronic myelomonocytic leukemia</p></def></def-item><def-item><term>CNS</term><def><p>Central nervous system</p></def></def-item><def-item><term>CSF</term><def><p>Cerebrospinal fluid</p></def></def-item><def-item><term>CT</term><def><p>Computed tomography</p></def></def-item><def-item><term>CTL</term><def><p>Cytotoxic T-lymphocyte</p></def></def-item><def-item><term>DA</term><def><p>Duration of attacks</p></def></def-item><def-item><term>Def</term><def><p>Deficiency</p></def></def-item><def-item><term>DHR</term><def><p>DiHydroRhodamine</p></def></def-item><def-item><term>Dip</term><def><p>Diphtheria</p></def></def-item><def-item><term>DITRA</term><def><p>Deficiency of interleukin 36 receptor antagonist </p></def></def-item><def-item><term>EBV</term><def><p>Epstein-Barr virus</p></def></def-item><def-item><term>EDA</term><def><p>Anhidrotic ectodermal dysplasia</p></def></def-item><def-item><term>EDA-ID</term><def><p>Anhidrotic ectodermal dysplasia with immunodeficiency</p></def></def-item><def-item><term>EO</term><def><p>Eosinophils</p></def></def-item><def-item><term>FA</term><def><p>Frequency of attacks</p></def></def-item><def-item><term>FCAS</term><def><p>Familial cold autoinflammatory syndrome</p></def></def-item><def-item><term>FILS</term><def><p>Facial dysmorphism, immunodeficiency, livedo, and short stature</p></def></def-item><def-item><term>FISH</term><def><p>Fluorescence in situ hybridization</p></def></def-item><def-item><term>GI</term><def><p>Gastrointestinal</p></def></def-item><def-item><term>GOF</term><def><p>Gain-of-function</p></def></def-item><def-item><term>HHV8</term><def><p>Human herpes virus type 8</p></def></def-item><def-item><term>Hib</term><def><p><italic>Haemophilus influenzae</italic> serotype b</p></def></def-item><def-item><term>HIDS</term><def><p>Hyper IgD syndrome</p></def></def-item><def-item><term>HIES</term><def><p>Hyper IgE syndrome</p></def></def-item><def-item><term>HIGM</term><def><p>Hyper Ig M syndrome</p></def></def-item><def-item><term>HLA</term><def><p>Human leukocyte antigen</p></def></def-item><def-item><term>HLH</term><def><p>Hemophagocytic lymphohistiocytosis</p></def></def-item><def-item><term>HPV</term><def><p>Human papilloma virus</p></def></def-item><def-item><term>HSM</term><def><p>Hepatosplenomegaly</p></def></def-item><def-item><term>HSV</term><def><p>Herpes simplex virus</p></def></def-item><def-item><term>HUS</term><def><p>Hemolytic uremic syndrome</p></def></def-item><def-item><term>Hx</term><def><p>Medical history</p></def></def-item><def-item><term>IBD</term><def><p>Inflammatory bowel disease</p></def></def-item><def-item><term>IFNγ</term><def><p>Interferon gamma</p></def></def-item><def-item><term>Ig</term><def><p>Immunoglobulin</p></def></def-item><def-item><term>IL</term><def><p>Interleukin</p></def></def-item><def-item><term>IUGR</term><def><p>Intrauterine growth retard</p></def></def-item><def-item><term>LAD</term><def><p>Leukocyte adhesion deficiency</p></def></def-item><def-item><term>LOF</term><def><p>Loss-of-function</p></def></def-item><def-item><term>MC</term><def><p>Molluscum contagiosum</p></def></def-item><def-item><term>MKD</term><def><p>Mevalonate kinase deficiency</p></def></def-item><def-item><term>MSMD</term><def><p>Mendelian susceptibility to mycobacterial disease</p></def></def-item><def-item><term>MWS</term><def><p>Muckle-wells syndrome</p></def></def-item><def-item><term>N</term><def><p>Normal, not low</p></def></def-item><def-item><term>NK</term><def><p>Natural killer</p></def></def-item><def-item><term>NKT</term><def><p>Natural killer T cell</p></def></def-item><def-item><term>NN</term><def><p>Neonatal</p></def></def-item><def-item><term>NOMID</term><def><p>Neonatal onset multisystem inflammatory disease</p></def></def-item><def-item><term>NP</term><def><p>Neutropenia</p></def></def-item><def-item><term>PAPA</term><def><p>Pyogenic sterile arthritis, pyoderma gangrenosum, acne syndrome</p></def></def-item><def-item><term>PMN</term><def><p>Neutrophils</p></def></def-item><def-item><term>SCID</term><def><p>Severe combined immuno deficiency</p></def></def-item><def-item><term>Sd</term><def><p>Syndrome</p></def></def-item><def-item><term>SLE</term><def><p>Systemic lupus erythematosus</p></def></def-item><def-item><term>SPM</term><def><p>Splenomegaly</p></def></def-item><def-item><term>Staph</term><def><p><italic>Staphylococcus sp.</italic></p></def></def-item><def-item><term>subcl</term><def><p>Subclass</p></def></def-item><def-item><term>TCR</term><def><p>T-cell receptor</p></def></def-item><def-item><term>Tet</term><def><p>Tetanus</p></def></def-item><def-item><term>T</term><def><p>T lymphocyte</p></def></def-item><def-item><term>TNF</term><def><p>Tumor necrosis factor</p></def></def-item><def-item><term>TRAPS</term><def><p>TNF receptor-associated periodic syndrome</p></def></def-item><def-item><term>VZV</term><def><p>Varicella zoster virus</p></def></def-item><def-item><term>WBC</term><def><p>White blood cells</p></def></def-item><def-item><term>XL</term><def><p>X-linked</p></def></def-item></def-list></glossary><ref-list id="Bib1"><title>References</title><ref id="CR1"><label>1.</label><mixed-citation publication-type="other">IUIS classification (to be precised) 2015.</mixed-citation></ref><ref id="CR2"><label>2.</label><element-citation publication-type="journal"><person-group 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