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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

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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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  1. Casanova JL, Conley ME, Seligman SJ, Abel L, Notarangelo LD. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J Exp Med. 2014;211(11):2137–49.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol (2022).

  3. Bousfiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova JL, Abel L. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol. 2013;33(1):1–7.

    Article  PubMed  Google Scholar 

  4. Jeddane L, Ouair H, Benhsaien I, El Bakkouri J, Bousfiha AA. Primary immunodeficiency classification on smartphone. J Clin Immunol. 2017;37(1):1–2.

    Article  PubMed  Google Scholar 

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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.

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LJ wrote the draft of the manuscript; AM, AAB, and CP prepared the figures. All co-authors contributed to and edited drafts of the original manuscript and figures, and approved the final submitted version.

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Correspondence to Aziz Bousfiha.

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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).

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