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

2020/01/01 by Aziz Bousfiha, Leïla Jeddane, Capucine Pïcard +16 · 7 citations
Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · Medicine · #Blood disorders and treatments #Immunodeficiency and Autoimmune Disorders #Tumors and Oncological Cases

paper · pdf · doi:10.1007/s10875-020-00758-x

openalex publication_date 2020/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

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.

Citations

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

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