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

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dc.contributor.authorAziz, Ahmed
dc.contributor.authorJeddane, Leïla
dc.contributor.authorMoundir, Abderrahmane
dc.contributor.authorPoli Harlowe, María Cecilia
dc.contributor.authorAksentijevich, Ivona
dc.contributor.authorCunningham, Charlotte
dc.contributor.authorHambleton, Sophie
dc.contributor.authorKlein, Christoph
dc.contributor.authorMorio, Tomohiro
dc.contributor.authorPicard, Capucine
dc.contributor.authorPuel, Anne
dc.contributor.authorRezaei, Nima
dc.contributor.authorSeppänen, Mikko
dc.contributor.authorSomech, Raz
dc.contributor.authorSu, Helen
dc.contributor.authorSullivan, Kathleen
dc.contributor.authorTorgerson, Troy
dc.contributor.authorTangye, Stuart
dc.contributor.authorMeyts, Isabelle
dc.date.accessioned2026-09-08T19:53:41Z
dc.date.available2026-09-08T19:53:41Z
dc.date.issued2025
dc.description.abstractHere, 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.
dc.description.versionVersión Publicada
dc.identifier.citationBousfiha 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. The 2024 update of IUIS phenotypic classification of human inborn errors of immunity. J Hum Immun. 2025 Apr 15;1(1):e20250002. doi: 10.70962/jhi.20250002
dc.identifier.doihttps://doi.org/10.70962/jhi.20250002
dc.identifier.urihttps://hdl.handle.net/11447/11098
dc.language.isoen
dc.subjectIUIS
dc.subjectPhenotypic
dc.titleThe 2024 update of IUIS phenotypic classification of human inborn errors of immunity
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceJournal of human immunity
dspace.entity.typePublication
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relation.isAuthorOfPublication.latestForDiscoverybf711dbf-cd6f-4a66-97fb-64c15f664de3

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