Chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of STAT1 in a Chinese boy

Chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of STAT1 in a Chinese boy

BackgroundSignal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations are characterized by chronic mucocutaneous candidiasis and autoimmune diseases. Type 1 diabetes mellitus is one of the well-characterized autoimmune conditions.Case presentationWe reported a 5-year-...

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Bibliographic Details
Main Authors: Bingyan Cao, Meijuan Liu, Yun Zhao, Chunxiu Gong
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Pediatrics
Subjects:
STAT1
chronic mucosal candidiasis
gain-of-function
diabetes mellitus
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1001290/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.1001290/full

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