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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

2020; Springer Science+Business Media; Volume: 40; Issue: 1 Linguagem: Inglês

10.1007/s10875-020-00758-x

1573-2592

Aziz Bousfiha, Leïla Jeddane, Capucine Pïcard, Waleed Al‐Herz, Fatima Ailal, Talal A. Chatila, Charlotte Cunningham‐Rundles, Amos Etzioni, José Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Hans D. Ochs, Éric Oksenhendler, Jennifer M. Puck, Troy R. Torgerson, Jean‐Laurent Casanova, Kathleen E. Sullivan, Stuart G. Tangye,

Tumors and Oncological Cases

Abstract Since 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.