Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
Identifieur interne : 006633 ( Ncbi/Merge ); précédent : 006632; suivant : 006634Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
Auteurs : Waleed Al-Herz [Koweït] ; Aziz Bousfiha [Maroc] ; Jean-Laurent Casanova [États-Unis, France] ; Talal Chatila [États-Unis] ; Mary Ellen Conley [États-Unis] ; Charlotte Cunningham-Rundles [États-Unis] ; Amos Etzioni [Israël] ; Jose Luis Franco [Colombie] ; H. Bobby Gaspar [Royaume-Uni] ; Steven M. Holland [États-Unis] ; Christoph Klein [Allemagne] ; Shigeaki Nonoyama [Japon] ; Hans D. Ochs [États-Unis] ; Erik Oksenhendler [France] ; Capucine Picard [France] ; Jennifer M. Puck [États-Unis] ; Kate Sullivan [États-Unis] ; Mimi L. K. Tang [Australie]Source :
- Frontiers in Immunology [ 1664-3224 ] ; 2014.
Abstract
We report the updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition, we have added a table of acquired defects that are phenocopies of PIDs. For each disorder, the key clinical and laboratory features are provided. This classification is the most up-to-date catalog of all known PIDs and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.
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DOI: 10.3389/fimmu.2014.00162
PubMed: 24795713
PubMed Central: 4001072
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency</title><author><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Pediatrics, Kuwait University</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></nlm:aff><country xml:lang="fr">Koweït</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></nlm:aff><country xml:lang="fr">Koweït</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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:aff id="aff3"><institution>Clinical Immunology Unit, Casablanca Children’s Hospital, Ibn Rochd Medical School, King Hassan II University</institution>,<addr-line>Casablanca</addr-line>,<country>Morocco</country></nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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:aff id="aff4"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Division of Immunology, Children’s Hospital Boston</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff4"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cunningham Rundles, Charlotte" sort="Cunningham Rundles, Charlotte" uniqKey="Cunningham Rundles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Medicine and Pediatrics, Mount Sinai School of Medicine</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Meyer Children’s Hospital-Technion</institution>,<addr-line>Haifa</addr-line>,<country>Israel</country></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff9"><institution>Group of Primary Immunodeficiencies, University of Antioquia</institution>,<addr-line>Medellin</addr-line>,<country>Colombia</country></nlm:aff><country xml:lang="fr">Colombie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff10"><institution>UCL Institute of Child Health</institution>,<addr-line>London</addr-line>,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff11"><institution>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich</institution>,<addr-line>Munich</addr-line>,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Department of Pediatrics, National Defense Medical College</institution>,<addr-line>Saitama</addr-line>,<country>Japan</country></nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff14"><institution>Department of Pediatrics, Seattle Children’s Research Institute, University of Washington</institution>,<addr-line>Seattle, WA</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Oksenhendler, Erik" sort="Oksenhendler, Erik" uniqKey="Oksenhendler E" first="Erik" last="Oksenhendler">Erik Oksenhendler</name><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Sorbonne Paris Cité, Université Paris Diderot</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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:aff id="aff5"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Centre d’Étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff18"><institution>Department of Pediatrics, UCSF Benioff Children’s Hospital, University of California San Francisco</institution>,<addr-line>San Francisco, CA</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Sullivan, Kate" sort="Sullivan, Kate" uniqKey="Sullivan K" first="Kate" last="Sullivan">Kate Sullivan</name><affiliation wicri:level="1"><nlm:aff id="aff19"><institution>Department of Pediatrics, Division of Allergy Immunology, The Children’s Hospital of Philadelphia</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff20"><institution>Murdoch Childrens Research Institute</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff21"><institution>Department of Paediatrics, University of Melbourne</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff22"><institution>Department of Allergy and Immunology, Royal Children’s Hospital</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country 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the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency</title><author><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name><affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Department of Pediatrics, Kuwait University</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></nlm:aff><country xml:lang="fr">Koweït</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></nlm:aff><country xml:lang="fr">Koweït</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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:aff id="aff3"><institution>Clinical Immunology Unit, Casablanca Children’s Hospital, Ibn Rochd Medical School, King Hassan II University</institution>,<addr-line>Casablanca</addr-line>,<country>Morocco</country></nlm:aff><country xml:lang="fr">Maroc</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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:aff id="aff4"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name><affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Division of Immunology, Children’s Hospital Boston</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff4"><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Cunningham Rundles, Charlotte" sort="Cunningham Rundles, Charlotte" uniqKey="Cunningham Rundles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name><affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Medicine and Pediatrics, Mount Sinai School of Medicine</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name><affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Meyer Children’s Hospital-Technion</institution>,<addr-line>Haifa</addr-line>,<country>Israel</country></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff9"><institution>Group of Primary Immunodeficiencies, University of Antioquia</institution>,<addr-line>Medellin</addr-line>,<country>Colombia</country></nlm:aff><country xml:lang="fr">Colombie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff10"><institution>UCL Institute of Child Health</institution>,<addr-line>London</addr-line>,<country>UK</country></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff11"><institution>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name><affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich</institution>,<addr-line>Munich</addr-line>,<country>Germany</country></nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name><affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Department of Pediatrics, National Defense Medical College</institution>,<addr-line>Saitama</addr-line>,<country>Japan</country></nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff14"><institution>Department of Pediatrics, Seattle Children’s Research Institute, University of Washington</institution>,<addr-line>Seattle, WA</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Oksenhendler, Erik" sort="Oksenhendler, Erik" uniqKey="Oksenhendler E" first="Erik" last="Oksenhendler">Erik Oksenhendler</name><affiliation wicri:level="1"><nlm:aff id="aff15"><institution>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Sorbonne Paris Cité, Université Paris Diderot</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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:aff id="aff5"><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Centre d’Étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP</institution>,<addr-line>Paris</addr-line>,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff18"><institution>Department of Pediatrics, UCSF Benioff Children’s Hospital, University of California San Francisco</institution>,<addr-line>San Francisco, CA</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Sullivan, Kate" sort="Sullivan, Kate" uniqKey="Sullivan K" first="Kate" last="Sullivan">Kate Sullivan</name><affiliation wicri:level="1"><nlm:aff id="aff19"><institution>Department of Pediatrics, Division of Allergy Immunology, The Children’s Hospital of Philadelphia</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></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 wicri:level="1"><nlm:aff id="aff20"><institution>Murdoch Childrens Research Institute</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff21"><institution>Department of Paediatrics, University of Melbourne</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff22"><institution>Department of Allergy and Immunology, Royal Children’s Hospital</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Frontiers in Immunology</title><idno type="eISSN">1664-3224</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>We report the updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition, we have added a table of acquired defects that are phenocopies of PIDs. For each disorder, the key clinical and laboratory features are provided. This classification is the most up-to-date catalog of all known PIDs and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.</p></div></front></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Front Immunol</journal-id><journal-id journal-id-type="iso-abbrev">Front Immunol</journal-id><journal-id journal-id-type="publisher-id">Front. Immunol.</journal-id><journal-title-group><journal-title>Frontiers in Immunology</journal-title></journal-title-group><issn pub-type="epub">1664-3224</issn><publisher><publisher-name>Frontiers Media S.A.</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24795713</article-id><article-id pub-id-type="pmc">4001072</article-id><article-id pub-id-type="doi">10.3389/fimmu.2014.00162</article-id><article-categories><subj-group subj-group-type="heading"><subject>Immunology</subject><subj-group><subject>Classification Article</subject></subj-group></subj-group></article-categories><title-group><article-title>Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Al-Herz</surname><given-names>Waleed</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="aff" rid="aff2"><sup>2</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/39391"></uri></contrib><contrib contrib-type="author"><name><surname>Bousfiha</surname><given-names>Aziz</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/40763"></uri></contrib><contrib contrib-type="author"><name><surname>Casanova</surname><given-names>Jean-Laurent</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref><xref ref-type="aff" rid="aff5"><sup>5</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/23598"></uri></contrib><contrib contrib-type="author"><name><surname>Chatila</surname><given-names>Talal</given-names></name><xref ref-type="aff" rid="aff6"><sup>6</sup></xref></contrib><contrib contrib-type="author"><name><surname>Conley</surname><given-names>Mary Ellen</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Cunningham-Rundles</surname><given-names>Charlotte</given-names></name><xref ref-type="aff" rid="aff7"><sup>7</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/42358"></uri></contrib><contrib contrib-type="author"><name><surname>Etzioni</surname><given-names>Amos</given-names></name><xref ref-type="aff" rid="aff8"><sup>8</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/25288"></uri></contrib><contrib contrib-type="author"><name><surname>Franco</surname><given-names>Jose Luis</given-names></name><xref ref-type="aff" rid="aff9"><sup>9</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/23962"></uri></contrib><contrib contrib-type="author"><name><surname>Gaspar</surname><given-names>H. Bobby</given-names></name><xref ref-type="aff" rid="aff10"><sup>10</sup></xref><xref ref-type="corresp" rid="cor1">*</xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/126978"></uri></contrib><contrib contrib-type="author"><name><surname>Holland</surname><given-names>Steven M.</given-names></name><xref ref-type="aff" rid="aff11"><sup>11</sup></xref></contrib><contrib contrib-type="author"><name><surname>Klein</surname><given-names>Christoph</given-names></name><xref ref-type="aff" rid="aff12"><sup>12</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nonoyama</surname><given-names>Shigeaki</given-names></name><xref ref-type="aff" rid="aff13"><sup>13</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/39288"></uri></contrib><contrib contrib-type="author"><name><surname>Ochs</surname><given-names>Hans D.</given-names></name><xref ref-type="aff" rid="aff14"><sup>14</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/25831"></uri></contrib><contrib contrib-type="author"><name><surname>Oksenhendler</surname><given-names>Erik</given-names></name><xref ref-type="aff" rid="aff15"><sup>15</sup></xref><xref ref-type="aff" rid="aff16"><sup>16</sup></xref></contrib><contrib contrib-type="author"><name><surname>Picard</surname><given-names>Capucine</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref><xref ref-type="aff" rid="aff17"><sup>17</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/135156"></uri></contrib><contrib contrib-type="author"><name><surname>Puck</surname><given-names>Jennifer M.</given-names></name><xref ref-type="aff" rid="aff18"><sup>18</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/39286"></uri></contrib><contrib contrib-type="author"><name><surname>Sullivan</surname><given-names>Kate</given-names></name><xref ref-type="aff" rid="aff19"><sup>19</sup></xref><uri xlink:type="simple" xlink:href="http://frontiersin.org/people/u/133432"></uri></contrib><contrib contrib-type="author"><name><surname>Tang</surname><given-names>Mimi L. K.</given-names></name><xref ref-type="aff" rid="aff20"><sup>20</sup></xref><xref ref-type="aff" rid="aff21"><sup>21</sup></xref><xref ref-type="aff" rid="aff22"><sup>22</sup></xref></contrib></contrib-group><aff id="aff1"><sup>1</sup><institution>Department of Pediatrics, Kuwait University</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></aff><aff id="aff2"><sup>2</sup><institution>Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital</institution>,<addr-line>Kuwait City</addr-line>,<country>Kuwait</country></aff><aff id="aff3"><sup>3</sup><institution>Clinical Immunology Unit, Casablanca Children’s Hospital, Ibn Rochd Medical School, King Hassan II University</institution>,<addr-line>Casablanca</addr-line>,<country>Morocco</country></aff><aff id="aff4"><sup>4</sup><institution>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></aff><aff id="aff5"><sup>5</sup><institution>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country></aff><aff id="aff6"><sup>6</sup><institution>Division of Immunology, Children’s Hospital Boston</institution>,<addr-line>Boston, MA</addr-line>,<country>USA</country></aff><aff id="aff7"><sup>7</sup><institution>Department of Medicine and Pediatrics, Mount Sinai School of Medicine</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country></aff><aff id="aff8"><sup>8</sup><institution>Meyer Children’s Hospital-Technion</institution>,<addr-line>Haifa</addr-line>,<country>Israel</country></aff><aff id="aff9"><sup>9</sup><institution>Group of Primary Immunodeficiencies, University of Antioquia</institution>,<addr-line>Medellin</addr-line>,<country>Colombia</country></aff><aff id="aff10"><sup>10</sup><institution>UCL Institute of Child Health</institution>,<addr-line>London</addr-line>,<country>UK</country></aff><aff id="aff11"><sup>11</sup><institution>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases</institution>,<addr-line>Bethesda, MD</addr-line>,<country>USA</country></aff><aff id="aff12"><sup>12</sup><institution>Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich</institution>,<addr-line>Munich</addr-line>,<country>Germany</country></aff><aff id="aff13"><sup>13</sup><institution>Department of Pediatrics, National Defense Medical College</institution>,<addr-line>Saitama</addr-line>,<country>Japan</country></aff><aff id="aff14"><sup>14</sup><institution>Department of Pediatrics, Seattle Children’s Research Institute, University of Washington</institution>,<addr-line>Seattle, WA</addr-line>,<country>USA</country></aff><aff id="aff15"><sup>15</sup><institution>Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris</institution>,<addr-line>Paris</addr-line>,<country>France</country></aff><aff id="aff16"><sup>16</sup><institution>Sorbonne Paris Cité, Université Paris Diderot</institution>,<addr-line>Paris</addr-line>,<country>France</country></aff><aff id="aff17"><sup>17</sup><institution>Centre d’Étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP</institution>,<addr-line>Paris</addr-line>,<country>France</country></aff><aff id="aff18"><sup>18</sup><institution>Department of Pediatrics, UCSF Benioff Children’s Hospital, University of California San Francisco</institution>,<addr-line>San Francisco, CA</addr-line>,<country>USA</country></aff><aff id="aff19"><sup>19</sup><institution>Department of Pediatrics, Division of Allergy Immunology, The Children’s Hospital of Philadelphia</institution>,<addr-line>Philadelphia, PA</addr-line>,<country>USA</country></aff><aff id="aff20"><sup>20</sup><institution>Murdoch Childrens Research Institute</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></aff><aff id="aff21"><sup>21</sup><institution>Department of Paediatrics, University of Melbourne</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></aff><aff id="aff22"><sup>22</sup><institution>Department of Allergy and Immunology, Royal Children’s Hospital</institution>,<addr-line>Melbourne, VIC</addr-line>,<country>Australia</country></aff><author-notes><fn fn-type="edited-by"><p>Edited by: Jordan Orange, Baylor College of Medicine, USA</p></fn><fn fn-type="edited-by"><p>Reviewed by: Jordan Orange, Baylor College of Medicine, USA; Francisco A. Bonilla, Boston Children’s Hospital, USA; Thomas Arthur Fleisher, National Institutes of Health, USA; Fischer Alain, INSERM, France</p></fn><corresp content-type="corresp" id="cor1">*Correspondence: H. Bobby Gaspar, Molecular Immunology Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK e-mail: <email>h.gaspar@ucl.ac.uk</email></corresp><fn fn-type="other" id="fn001"><p>This article was submitted to Primary Immunodeficiencies, a section of the journal Frontiers in Immunology.</p></fn></author-notes><pub-date pub-type="epub"><day>22</day><month>4</month><year>2014</year></pub-date><pub-date pub-type="collection"><year>2014</year></pub-date><volume>5</volume><elocation-id>162</elocation-id><history><date date-type="received"><day>16</day><month>12</month><year>2013</year></date><date date-type="accepted"><day>27</day><month>3</month><year>2014</year></date></history><permissions><copyright-statement>Copyright © 2014 Al-Herz, Bousfiha, Casanova, Chatila, Conley, Cunningham-Rundles, Etzioni, Franco, Gaspar, Holland, Klein, Nonoyama, Ochs, Oksenhendler, Picard, Puck, Sullivan and Tang.</copyright-statement><copyright-year>2014</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/3.0/"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.</license-p></license></permissions><abstract><p>We report the updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies. In comparison to the previous version, more than 30 new gene defects are reported in this updated version. In addition, we have added a table of acquired defects that are phenocopies of PIDs. For each disorder, the key clinical and laboratory features are provided. This classification is the most up-to-date catalog of all known PIDs and acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.</p></abstract><kwd-group><kwd>primary immunodeficiencies</kwd><kwd>IUIS</kwd><kwd>classification</kwd><kwd>genetic defects</kwd><kwd>genotype</kwd></kwd-group><counts><fig-count count="0"></fig-count><table-count count="9"></table-count><equation-count count="0"></equation-count><ref-count count="0"></ref-count><page-count count="33"></page-count><word-count count="12720"></word-count></counts></article-meta></front></pmc><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Colombie</li><li>France</li><li>Israël</li><li>Japon</li><li>Koweït</li><li>Maroc</li><li>Royaume-Uni</li><li>États-Unis</li></country></list><tree><country name="Koweït"><noRegion><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name></noRegion><name sortKey="Al Herz, Waleed" sort="Al Herz, Waleed" uniqKey="Al Herz W" first="Waleed" last="Al-Herz">Waleed Al-Herz</name></country><country name="Maroc"><noRegion><name sortKey="Bousfiha, Aziz" sort="Bousfiha, Aziz" uniqKey="Bousfiha A" first="Aziz" last="Bousfiha">Aziz Bousfiha</name></noRegion></country><country name="États-Unis"><noRegion><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name></noRegion><name sortKey="Chatila, Talal" sort="Chatila, Talal" uniqKey="Chatila T" first="Talal" last="Chatila">Talal Chatila</name><name sortKey="Conley, Mary Ellen" sort="Conley, Mary Ellen" uniqKey="Conley M" first="Mary Ellen" last="Conley">Mary Ellen Conley</name><name sortKey="Cunningham Rundles, Charlotte" sort="Cunningham Rundles, Charlotte" uniqKey="Cunningham Rundles C" first="Charlotte" last="Cunningham-Rundles">Charlotte Cunningham-Rundles</name><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><name sortKey="Ochs, Hans D" sort="Ochs, Hans D" uniqKey="Ochs H" first="Hans D." last="Ochs">Hans D. Ochs</name><name sortKey="Puck, Jennifer M" sort="Puck, Jennifer M" uniqKey="Puck J" first="Jennifer M." last="Puck">Jennifer M. Puck</name><name sortKey="Sullivan, Kate" sort="Sullivan, Kate" uniqKey="Sullivan K" first="Kate" last="Sullivan">Kate Sullivan</name></country><country name="France"><noRegion><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name></noRegion><name sortKey="Oksenhendler, Erik" sort="Oksenhendler, Erik" uniqKey="Oksenhendler E" first="Erik" last="Oksenhendler">Erik Oksenhendler</name><name sortKey="Oksenhendler, Erik" sort="Oksenhendler, Erik" uniqKey="Oksenhendler E" first="Erik" last="Oksenhendler">Erik Oksenhendler</name><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name><name sortKey="Picard, Capucine" sort="Picard, Capucine" uniqKey="Picard C" first="Capucine" last="Picard">Capucine Picard</name></country><country name="Israël"><noRegion><name sortKey="Etzioni, Amos" sort="Etzioni, Amos" uniqKey="Etzioni A" first="Amos" last="Etzioni">Amos Etzioni</name></noRegion></country><country name="Colombie"><noRegion><name sortKey="Franco, Jose Luis" sort="Franco, Jose Luis" uniqKey="Franco J" first="Jose Luis" last="Franco">Jose Luis Franco</name></noRegion></country><country name="Royaume-Uni"><noRegion><name sortKey="Gaspar, H Bobby" sort="Gaspar, H Bobby" uniqKey="Gaspar H" first="H. Bobby" last="Gaspar">H. Bobby Gaspar</name></noRegion></country><country name="Allemagne"><noRegion><name sortKey="Klein, Christoph" sort="Klein, Christoph" uniqKey="Klein C" first="Christoph" last="Klein">Christoph Klein</name></noRegion></country><country name="Japon"><noRegion><name sortKey="Nonoyama, Shigeaki" sort="Nonoyama, Shigeaki" uniqKey="Nonoyama S" first="Shigeaki" last="Nonoyama">Shigeaki Nonoyama</name></noRegion></country><country name="Australie"><noRegion><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></noRegion><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><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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