Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Abstract

Abstract We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.

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Affiliated Institutions

• Université Paris Cité FR
• Assistance Publique – Hôpitaux de Paris FR
• Boston Children's Hospital US
• University of Hassan II Casablanca MA
• Universidad de Antioquia CO
• Hôpital Saint-Louis FR
• Technion – Israel Institute of Technology IL
• Rockefeller University US
• Garvan Institute of Medical Research AU
• University of Pennsylvania US
• Institut des Maladies Génétiques Imagine FR
• Howard Hughes Medical Institute US
• Icahn School of Medicine at Mount Sinai US
• Tokyo Medical and Dental University JP
• Ludwig-Maximilians-Universität München DE
• UNSW Sydney AU
• Sorbonne Paris Cité FR
• National Institutes of Health US
• Seattle Children's Hospital US
• Children's Hospital of Philadelphia US
• National Institute of Allergy and Infectious Diseases US
• Délégation Paris 7 FR
• Inserm FR
• Philadelphia University US
• UCSF Benioff Children's Hospital US
• Kuwait University KW
• St Vincent's Clinic AU
• University of Washington US
• The University of Tokyo JP
• University of California, San Francisco US

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