Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

Front. Immunol., 22 April 2014 | doi: 10.3389/fimmu.2014.00162

Waleed Al-Herz^1,2, Aziz Bousfiha³, Jean-Laurent Casanova^4,5, Talal Chatila⁶, Mary Ellen Conley⁴, Charlotte Cunningham-Rundles⁷, Amos Etzioni⁸, Jose Luis Franco⁹, H. Bobby Gaspar¹⁰*, Steven M. Holland¹¹,Christoph Klein¹², Shigeaki Nonoyama¹³, Hans D. Ochs¹⁴, Erik Oksenhendler^15,16, Capucine Picard^5,17, Jennifer M. Puck¹⁸, Kate Sullivan¹⁹ and Mimi L. K. Tang^20,21,22

• 1Department of Pediatrics, Kuwait University, Kuwait City, Kuwait
• 2Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait
• 3Clinical Immunology Unit, Casablanca Children’s Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco
• 4St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
• 5Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institut, Necker Medical School, University Paris Descartes, Paris, France
• 6Division of Immunology, Children’s Hospital Boston, Boston, MA, USA
• 7Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA
• 8Meyer Children’s Hospital-Technion, Haifa, Israel
• 9Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia
• 10UCL Institute of Child Health, London, UK
• 11Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA
• 12Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University Munich, Munich, Germany
• 13Department of Pediatrics, National Defense Medical College, Saitama, Japan
• 14Department of Pediatrics, Seattle Children’s Research Institute, University of Washington, Seattle, WA, USA
• 15Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France
• 16Sorbonne Paris Cité, Université Paris Diderot, Paris, France
• 17Centre d’Étude des Déficits Immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP, Paris, France
• 18Department of Pediatrics, UCSF Benioff Children’s Hospital, University of California San Francisco, San Francisco, CA, USA
• 19Department of Pediatrics, Division of Allergy Immunology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
• 20Murdoch Childrens Research Institute, Melbourne, VIC, Australia
• 21Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia
• 22Department of Allergy and Immunology, Royal Children’s Hospital, Melbourne, VIC, Australia

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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Keywords: primary immunodeficiencies, IUIS, classification, genetic defects, genotype

Citation: Al-Herz W, Bousfiha A, Casanova J-L, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K and Tang MLK (2014) Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Front. Immunol. 5:162. doi: 10.3389/fimmu.2014.00162

Received: 16 December 2013; Accepted: 27 March 2014;
Published online: 22 April 2014.

Edited by:

Jordan Orange, Baylor College of Medicine, USA

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

Copyright: © 2014 Al-Herz, Bousfiha, Casanova, Chatila, Conley, Cunningham-Rundles, Etzioni, Franco, Gaspar, Holland, Klein, Nonoyama, Ochs, Oksenhendler, Picard, Puck, Sullivan and Tang. 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.

*Correspondence: H. Bobby Gaspar, Molecular Immunology Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK e-mail: h.gaspar@ucl.ac.uk