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Article

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

BMJ case reports - 22 Oct 2015

Nielsen Jakob, Kofod-Olsen Emil, Spaun Eva, Larsen Carsten S, Christiansen Mette, Mogensen Trine Hyrup

Abstract excerpt

During recent years, inborn errors of human IL-17 immunity have been demonstrated to underlie primary immunodeficiencies with chronic mucocutaneous candidiasis (CMC). Various defects in receptors responsible for sensing of Candida albicans or downstream signalling to IL-17 may lead to susceptibility to Candida infection. While CMC is common in patients with profound T cell immunodeficiencies, CMC is also...

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Source

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Identifiers

PMID: 26494717
DOI: 10.1136/bcr-2015-211372
PMCID: PMC4620220

Genes

STAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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