Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

doi:10.1189/jlb.0513250

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Article

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

Journal of leukocyte biology - 1 Apr 2014

Mizoguchi Yoko, Tsumura Miyuki, Okada Satoshi, Hirata Osamu, Minegishi Shizuko, Imai Kohsuke, Hyakuna Nobuyuki, Muramatsu Hideki, Kojima Seiji, Ozaki Yusuke, Imai Takehide, Takeda Sachiyo, Okazaki Tetsuya, Ito Tsuyoshi, Yasunaga Shin'ichiro, Takihara Yoshihiro, Bryant Vanessa L, Kong Xiao-Fei, Cypowyj Sophie, Boisson-Dupuis Stéphanie, Puel Anne, Casanova Jean-Laurent, Morio Tomohiro, Kobayashi Masao

Abstract excerpt

CMCD is a rare congenital disorder characterized by persistent or recurrent skin, nail, and mucosal membrane infections caused by Candida albicans. Heterozygous GOF STAT1 mutations have been shown to confer AD CMCD as a result of impaired dephosphorylation of STAT1. We aimed to identify and characterize STAT1 mutations in CMCD patients and to develop a simple diagnostic assay of CMCD. Genetic analysis of STAT1...

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Identifiers

PMID: 24343863
DOI: 10.1189/jlb.0513250
PMCID: PMC3958742

Genes

STAT1

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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.

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