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

Mycopathologia - 1 Apr 2023

Wang Xu, Zhao Weiwei, Chen Feng, Zhou Peiru, Yan Zhimin

Abstract excerpt

OBJECTIVE: To further elucidate the clinical, immunological and genetic features of chronic mucocutaneous candidiasis (CMC) due to STAT1 GOF mutation in the Chinese population. METHODS: Clinical data for a proband were collected, and pedigree analyses were performed. Whole-exome sequencing and targeted Sanger sequencing were conducted to explore genetic factors of a Chinese pedigree involving inherited CMC....

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Identifiers

PMID: 36335528
DOI: 10.1007/s11046-022-00685-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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