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J Clin Immunol. 2015 Nov;35(8):696-726. doi: 10.1007/s10875-015-0201-1. Epub 2015 Oct 19.

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

Author information

1
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
2
Centre d'étude des déficits immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
3
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
4
Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait.
5
Clinical Immunology Unit, Casablanca Children's Hospital, Ibn Rochd Medical School, King Hassan II University, Casablanca, Morocco.
6
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
7
Howard Hughes Medical Institute, New York, NY, USA.
8
University Paris Descartes, Imagine Institute, Paris, France.
9
Pediatric Hematology & Immunology Unit, Necker Hospital for Sick Children, Paris, France.
10
Division of Immunology, Children's Hospital Boston, Boston, MA, USA.
11
Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
12
Meyer Children's Hospital-Technion, Haifa, Israel.
13
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA.
14
Dr von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
15
Department of Pediatrics, National Defense Medical College, Saitama, Japan.
16
Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA.
17
Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.
18
Université 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
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
21
Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
22
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
23
Department of Allergy and Immunology, Royal Children's Hospital, Melbourne, Australia.
24
Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia.
25
UCL Institute of Child Health, 30, Guilford Street, London, WC1N 1EH, UK. h.gaspar@ucl.ac.uk.

Abstract

We report the updated classification of primary immunodeficiencies compiled by the Primary Immunodeficiency Expert Committee (PID EC) of the International Union of Immunological Societies (IUIS). In the two years since the previous version, 34 new gene defects are reported in this updated version. For each disorder, the key clinical and laboratory features are provided. In this new version we continue to see the increasing overlap between immunodeficiency, as manifested by infection and/or malignancy, and immune dysregulation, as manifested by auto-inflammation, auto-immunity, and/or allergy. There is also an increased number of genetic defects that lead to susceptibility to specific organisms which reflects the finely tuned nature of immune defense systems. This classification is the most up to date catalogue of all known and published primary immunodeficiencies and acts as a current reference of the knowledge of these conditions and is an important aid for the genetic and molecular diagnosis of patients with these rare diseases.

KEYWORDS:

Primary immunodeficiencies; classification; genetic defects

PMID:
26482257
PMCID:
PMC4659841
DOI:
10.1007/s10875-015-0201-1
[Indexed for MEDLINE]
Free PMC Article
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