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J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8. Epub 2017 Dec 11.

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.

Author information

1
Laboratory of Clinical Immunology, Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco. profbousfiha@gmail.com.
2
Laboratory of Clinical Immunology, Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco.
3
Laboratoire National de Référence, Mohammed VI University of Health Sciences (UM6SS), Casablanca, Morocco.
4
Center for the Study of Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris(APHP), Paris, France.
5
Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, Paris Descartes University, Paris, France.
6
UCL Great Ormond Street Institute of Child Health, London, UK.
7
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
8
Division of Immunology, Children's Hospital Boston, Boston, MA, USA.
9
Laboratory of Neuroinflammation and Neurogenetics, Necker Branch, INSERM UMR1163, Sorbonne-Paris-Cité, Institut Imagine, Paris Descartes University, Paris, France.
10
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
11
Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, NewYork, NY, USA.
12
Ruth's Children's Hospital-Technion, Haifa, Israel.
13
Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
14
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA.
15
Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
16
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
17
Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA.
18
Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, University Paris Diderot, Sorbonne Paris Cité, Paris, France.
19
Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USA.
20
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
21
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
22
Department of Allergy and Immunology, Royal Children's Hospital, Melbourne, Australia.
23
Immunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
24
St Vincent's Clinical School, University of NSW, Sydney, Australia.
25
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
26
Howard Hughes Medical Institute, New York, NY, USA.
27
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Imagine Institute, Necker Hospital for Sick Children, University Paris Descartes, Paris, France.
28
Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children APHP, Paris, France.
29
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Abstract

Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. We herein propose the revised 2017 phenotypic classification, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.

KEYWORDS:

Classification; IUIS; Inborn errors of immunity; Phenotypic; Primary immunodeficiencies

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