Kuwait Medical Electronic Library

The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

Aziz Bousfiha 1, Leïla Jeddane 2, Waleed Al-Herz 3 4, Fatima Ailal 2, Jean-Laurent Casanova 5 6 7 8 9, Talal Chatila 10, Mary Ellen Conley 5, Charlotte Cunningham-Rundles 11, Amos Etzioni 12, Jose Luis Franco 13, H Bobby Gaspar 14, Steven M Holland 15, Christoph Klein 16, Shigeaki Nonoyama 17, Hans D Ochs 18, Eric Oksenhendler 19 20, Capucine Picard 6 21, Jennifer M Puck 22, Kathleen E Sullivan 23, Mimi L K Tang 24 25 26

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Affiliations

Clinical Immunology Unit, A. Harouchi Hospital, Ibn Roshd Medical School, King Hassan II University, Casablanca, Morocco. profbousfiha@gmail.com.
Clinical Immunology Unit, A. Harouchi Hospital, Ibn Roshd Medical School, King Hassan II University, Casablanca, Morocco.
Department of Pediatrics, Faculty of Medicine Kuwait University, Jabriya, Kuwait.
Allergy and Clinical Immunology Unit, Department of Pediatrics, Al-Sabah Hospital, Kuwait City, Kuwait.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Howard Hughes Medical Institute, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University Paris Descartes, Paris, France.
Pediatric Hematology & Immunology Unit, Necker Hospital for Sick Children, Paris, France.
Division of Immunology, Children's Hospital Boston, Boston, MA, USA.
Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Meyer Children's Hospital-Technion, Haifa, Israel.
Group of Primary Immunodeficiencies, University of Antioquia, Medellin, Colombia.
UCL Institute of Child Health, London, UK.
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA.
Dr von Hauner Children's Hospital, Ludwig-Maximilians University Munich, Munich, Germany.
Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA, USA.
Department of Clinical Immunology, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Paris, France.
Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
Centre d'étude des déficits immunitaires (CEDI), Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Department of Pediatrics, University of California San Francisco and UCSF Benioff Children's Hospital, San Francisco, CA, USA.
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Murdoch Childrens Research Institute, Melbourne, VIC, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Department of Allergy and Immunology, Royal Children's Hospital, Melbourne, VIC, Australia.

01 November 2015

doi: 10.1007/s10875-015-0198-5

Abstract

There are now nearly 300 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation. For each of these five categories, a growing variety of phenotypes are ascribed to Primary Immunodeficiency Diseases (PID), making PIDs a rapidly expanding field of medicine. The International Union of Immunological Societies (IUIS) PID expert committee (EC) has published every other year a classification of these disorders into tables, defined by shared pathogenesis and/or clinical consequences. In 2013, the IUIS committee also proposed a more user-friendly, phenotypic classification, based on the selection of key phenotypes at the bedside. We herein propose the revised figures, based on the accompanying 2015 IUIS PID EC classification.

Keywords: IUIS PID expert committee; Primary immunodeficiencies; classification.

Figures

Fig. 1 Immunodeficiencies affecting cellular and humoral immunity. ADA Adenosine Deaminase, Adp adenopathy, AR Autosomal Recessive inheritance, CBC Complete Blood Count, CD Cluster of Differentiation, CID Combined Immunodeficiency, EBV Epstein-Barr Virus, EO Eosinophils, HHV8 Human Herpes virus type 8, HIGM Hyper IgM syndrome, HLA Human Leukocyte Antigen, HSM Hepatosplenomegaly, HPV Human papilloma virus, IBD Inflammatory bowel disease, Ig Immunoglobulin, MC Molluscum contagiosum, N Normal, not low, NK Natural Killer, NN Neonatal, NP Neutropenia, SCID Severe Combined ImmunoDeficiency, Staph Staphylococcus sp., TCR T-Cell Receptor, XL X-Linked

Fig. 2 CID with associated or syndromic features. These syndromes are generally associated with T-cell immunodeficiency. αFP alpha- fetoprotein, AD Autosomal Dominant inheritance, AR Autosomal Recessive inheritance, CMF Flow cytometry available, EDA Anhidrotic ectodermal dysplasia, EDA-ID Anhidrotic Ectodermal Dysplasia with Immunodeficiency, FILS Facial dysmorphism, immunodeficiency, livedo, and short stature, FISH Fluorescence in situ Hybridization, HSM Hepatosplenomegaly, HSV Herpes simplex virus, Ig Immunoglobulin, VZV Varicella Zoster virus, WAS Wiskott-Aldrich syndrome, XL X-Linked inheritance

Fig. 3 Predominantly Antibody deficiencies. Ab Antibody, Adp adenopathy, Anti PPS Anti- pneumococcus Antibody, AR Autosomal Recessive inheritance, CD Cluster of Differentiation, CDG-IIb Congenital disorder of glycosylation, type IIb, CMV Cytomegalovirus, CT Computed Tomography, EBV Epstein-Barr Virus, Dip Diphtheria, GI Gastrointestinal, Hib Haemophilus influenzae serotype b, Hx medical history, Ig Immunoglobulin, SPM Splenomegaly, subcl subclass, Tet Tetanus, XL X-Linked inheritance

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KMEL References

https://pubmed.ncbi.nlm.nih.gov/

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The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

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