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Article

Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).

European journal of immunology - 1 Oct 2015

Zheng Jie, van de Veerdonk Frank L, Crossland Katherine L, Smeekens Sanne P, Chan Chun M, Al Shehri Tariq, Abinun Mario, Gennery Andrew R, Mann Jelena, Lendrem Dennis W, Netea Mihai G, Rowan Andrew D, Lilic Desa

Abstract excerpt

Signal transducer and activator of transcription 3 (STAT3) triggered production of Th-17 cytokines mediates protective immunity against fungi. Mutations affecting the STAT3/interleukin 17 (IL-17) pathway cause selective susceptibility to fungal (Candida) infections, a hallmark of chronic mucocutaneous candidiasis (CMC). In patients with autosomal dominant CMC, we and others previously reported defective Th17...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26255980
DOI: 10.1002/eji.201445344

Genes

STAT3
STAT1
HDAC1
HDAC2
HDAC3
RORC
SOCS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).PMID 26255980Read ↗

Insights Into the Susceptibility of Fungal Infection and STAT3 Genetic Mutations.Semantic proximity Read ↗

Gain-of-function human <i>STAT1</i> mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasisSemantic proximity Read ↗

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.Semantic proximity Read ↗

Aberrant tolerogenic functions and proinflammatory skew of dendritic cells in STAT1 gain-of-function patients may contribute to autoimmunity and fungal susceptibility.Semantic proximity Read ↗

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.Semantic proximity Read ↗

A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.Semantic proximity Read ↗

A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.Semantic proximity Read ↗

Chronic mucocutaneous candidiasis due to gain‐of‐function mutation in STAT 1Semantic proximity Read ↗

Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.Semantic proximity Read ↗

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

Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation.Semantic proximity Read ↗

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.Semantic proximity Read ↗

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