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Article

Mild Phenotype in Functionally Validated STAT1 Gain-of-Function Disease Due to a Novel DNA-Binding Variant.

Scandinavian journal of immunology - 1 Oct 2026

Duran Bahri Can, Aytekin Caner, Tsumura Miyuki, Bahadır Erhan, Özmen Serap, Okada Satoshi, Béziat Vivien, Puel Anne, Casanova Jean-Laurent

Abstract excerpt

Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) disease is associated with chronic mucocutaneous candidiasis, infections, autoimmunity, and immune dysregulation; however, mutation-level determinants of phenotypic variability remain incompletely defined. We aimed to describe the clinical, immunologic, and functional features of four patients with STAT1-GOF disease, including three...

Read the complete abstract on PubMed

Topics

Humans
Autoimmunity
Candidiasis, Chronic Mucocutaneous
Exome Sequencing
Gain of Function Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Interferon-gamma

Phenotype

STAT1 Transcription Factor

Source

Identifiers

PMID: 42773575
DOI: 10.1111/sji.70154

Genes

STAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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