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Article

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

Journal of clinical immunology - 1 Nov 2020

Okada Satoshi, Asano Takaki, Moriya Kunihiko, Boisson-Dupuis Stephanie, Kobayashi Masao, Casanova Jean-Laurent, Puel Anne

Abstract excerpt

Heterozygous gain-of-function (GOF) mutations in STAT1 in patients with chronic mucocutaneous candidiasis (CMC) and hypothyroidism were discovered in 2011. CMC is the recurrent or persistent mucocutaneous infection by Candida fungi, and hypothyroidism results from autoimmune thyroiditis. Patients with these diseases develop other infectious diseases, including viral, bacterial, and fungal diseases, and other...

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Identifiers

PMID: 32852681
DOI: 10.1007/s10875-020-00847-x
PMCID: PMC8561788

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