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Article

Homozygosity for the Common IL23R R381Q Variant Associates with Increased Susceptibility to Chronic Mucocutaneous Candidiasis.

European journal of immunology - 1 Jul 2025

Gerbaux Margaux, Staels Frederik, Willemsen Mathijs, Neumann Julika, Bücken Leoni, Van Meerbeeck Lize, Roosens Willem, Liston Adrian, Humblet-Baron Stéphanie, Schrijvers Rik

Abstract excerpt

Chronic mucocutaneous candidiasis can be caused by an Inborn Error of Immunity, especially those affecting TH-17 / IL-17 responses. Through in-depth immunophenotyping and functional assays, we reveal the association between homozygous carriage of the common p.R381Q IL-23R genetic variant and increased candidiasis susceptibility, relying on disrupted IL-23-mediated IL-17 immunity.

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Share to Candidiasis, Chronic Mucocutaneous
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Interleukin-17

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Share to Receptors, Interleukin

Share to Th17 Cells

Source

Open in PubMed Open full text

Identifiers

PMID: 40685773
DOI: 10.1002/eji.70002
PMCID: PMC12277866

Genes

IL23R
TH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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