Author:
Bousfiha Aziz,Jeddane Leila,Picard Capucine,Al-Herz Waleed,Ailal Fatima,Chatila Talal,Cunningham-Rundles Charlotte,Etzioni Amos,Franco Jose Luis,Holland Steven M,Klein Christoph,Morio Tomohiro,Ochs Hans D.,Oksenhendler Eric,Puck Jennifer,Torgerson Troy R.,Casanova Jean-Laurent,Sullivan Kathleen E.,Tangye Stuart G.
Abstract
AbstractSince 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification into ten tables. This phenotypic classification is user-friendly and serves as a resource for clinicians at the bedside. There are now 430 single-gene IEI underlying phenotypes as diverse as infection, malignancy, allergy, autoimmunity, and autoinflammation. We herein report the 2019 phenotypic classification, including the 65 new conditions. The diagnostic algorithms are based on clinical and laboratory phenotypes for each of the ten broad categories of IEI.
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Cited by
520 articles.
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