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Article

A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis.

Acta microbiologica et immunologica Hungarica - 1 Jun 2017

Eslami Narges, Tavakol Marzieh, Mesdaghi Mehrnaz, Gharegozlou Mohammad, Casanova Jean-Laurent, Puel Anne, Okada Satoshi, Arshi Saba, Bemanian Mohammad Hassan, Fallahpour Morteza, Molatefi Rasool, Seif Farhad, Zoghi Samaneh, Rezaei Nima, Nabavi Mohammad

Abstract excerpt

Heterozygous gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) have increasingly been identified as a genetic cause of autosomal-dominant (AD) chronic mucocutaneous candidiasis (CMC). In this article, we describe a 33-year-old man who experienced chronic refractory candidiasis, recurrent otitis media, and pneumonia resulting in bronchiectasis, severe oral and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28597685
DOI: 10.1556/030.64.2017.014

Genes

STAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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