Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of clinical immunology - 30 Sept 2025

Xiang Yang, Sun Shuo, Wang Hong, Lo Chia-Chi, Wu Jie, Lei Wei-Te, Li Fengming, Liu Xiaodong, Dang Ningning, Ku Cheng-Lung, Guo Jing

Abstract excerpt

OBJECTIVE: Germline heterozygous gain-of-function (GOF) mutations in STAT1 impair IL-17-mediated immunity, resulting in carriers' susceptibility to chronic mucocutaneous candidiasis (CMC). JAK inhibitors have shown therapeutic effectiveness in patients with STAT1-GOF mutations. METHODS: The mutation was detected using whole-exome sequencing (WES) and confirmed by Sanger sequencing. The functional impact of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Candidiasis, Chronic Mucocutaneous
Share to Cytokines

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Gain of Function Mutation

Share to Nitriles

Share to Pyrazoles

Share to Pyrimidines

Share to STAT1 Transcription Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 41026300
DOI: 10.1007/s10875-025-01937-4
PMCID: PMC12484367

Genes

STAT1
CD4
TNF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.PMID 41026300Read ↗

Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.Semantic proximity Read ↗

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

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

STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.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 ↗

Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.Semantic proximity Read ↗

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

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

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

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.Semantic proximity Read ↗

Gain-of-Function Mutations inSTAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined ImmunodeficienciesSemantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.