A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature

STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve...

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Detalles Bibliográficos
Autores principales: Alidrisi, Dhuha, Maksood, Lama, Alqahtani, Wed, Minshawi, Faisal, Aburziza, Abdullah, Janem, Waleed F., Almatrafi, Mohammed A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9040560/
https://www.ncbi.nlm.nih.gov/pubmed/35498362
http://dx.doi.org/10.1002/ccr3.5791

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