Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia

Inherited autosomal dominant gain-of-function (GOF) mutations of signal transducer and activator of transcription 1 (STAT1) cause a wide range of symptoms affecting multiple systems, including chronic mucocutaneous candidiasis (CMC), infections, and autoimmune disorders. We describe a rare case of S...

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Detalles Bibliográficos
Autores principales: Xie, Yifan, Shao, Fenli, Lei, Juan, Huang, Na, Fan, Zhidan, Yu, Haiguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464931/
https://www.ncbi.nlm.nih.gov/pubmed/36105803
http://dx.doi.org/10.3389/fimmu.2022.928213

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