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The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.

Lookup NU author(s): Professor Sophie HambletonORCiD

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Abstract

Here, we report the 2024 update of the phenotypic classification by the International Union of Immunological Societies (IUIS) expert committee (EC) on inborn errors of immunity (IEI), which accompanies and complements the 2024 genotypic classification. The aim of this classification is to help diagnosis for clinicians at the bedside and focuses on clinical features and basic laboratory phenotypes of specific IEI. In this update, 559 IEI are described, including 67 novel monogenic defects and 2 new phenocopies. This phenotypic classification is presented in the form of decision trees when possible, with essential clinical or immunological phenotype entries.

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Author(s): Bousfiha AA, Jeddane L, Moundir A, Poli MC, Aksentijevich I, Cunningham-Rundles C, Hambleton S, Klein C, Morio T, Picard C, Puel A, Rezaei N, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Tangye SG, Meyts I

Publication type: Article

Publication status: Published

Journal: Journal of Human Immunity

Year: 2025

Volume: 1

Issue: 1

Online publication date: 15/04/2025

Acceptance date: 12/03/2025

Date deposited: 06/05/2025

ISSN (electronic): 3065-8993

Publisher: Rockefeller University Press

URL: https://doi.org/10.70962/jhi.20250002

DOI: 10.70962/jhi.20250002

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