The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification, which accompanies and complements the most-recent genotypic classification. This phenotypic classification is aimed for clinicians at the bedside and focuses on clinical features and laboratory phenotypes of specific IEI. In this classification, 485 IEI underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity and auto-inflammation are described, including 55 novel monogenic defects and 1 autoimmune phenocopy. Therefore, all 485 diseases of the genetic classification are presented in this paper in the form of colored tables with essential clinical or immunological phenotype entries.
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The members of the Inborn Errors of Immunity committee would like to thank the CSL Behring, Baxalta, and Shire/Takeda for providing educational grants to enable us to compile this update to novel causes of immune diseases.
IM is a Senior Clinical Investigator at the Research Foundation—Flanders, and is supported by the CSL Behring Chair of Primary Immunodeficiencies, by the KU Leuven C1 Grant C16/18/007, by a VIB GC PID Grant, by the FWO Grants G0C8517N, G0B5120N, and G0E8420N, and by the Jeffrey Modell Foundation. This project has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation program (grant agreement no. 948959). This work is supported by ERN-RITA.
This work received funding from the International Union of Immunological Societies and was also supported in part by the Intramural Research Program of the NIAID, NIH.
No human research studies were performed to produce this classification. Thus, no approvals by appropriate institutional review boards or human research ethics committees were required to undertake the preparation of this report.
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Bousfiha, A., Moundir, A., Tangye, S.G. et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol 42, 1508–1520 (2022). https://doi.org/10.1007/s10875-022-01352-z