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

BACKGROUND: Signal 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 PRESENTATION: We reported a 5-...

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Detalles Bibliográficos
Autores principales: Cao, Bingyan, Liu, Meijuan, Zhao, Yun, Gong, Chunxiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9595572/
https://www.ncbi.nlm.nih.gov/pubmed/36304533
http://dx.doi.org/10.3389/fped.2022.1001290

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