Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
Identifieur interne : 000112 ( France/Analysis ); précédent : 000111; suivant : 000113Primary 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.
Url:
DOI: 10.3389/fimmu.2014.00162
PubMed: 24795713
PubMed Central: 4001072
Affiliations:
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Bobby" sort="Gaspar, H Bobby" uniqKey="Gaspar H" first="H. 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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. 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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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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><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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