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Chronic Candida infection, bronchiectasis, immunoglobulin abnormalities, and stunting: a case report of a natural mutation of STAT1 (c.986C>G) in an adolescent male

BACKGROUND: Chronic mucocutaneous candidiasis (CMC) is the most common clinical symptom of singer transducer and signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations. Bronchiectasis is a chronic lung disease that is characterized by permanent bronchiectasis, ca...

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Detalles Bibliográficos
Autores principales: Yu, Yali, Xu, Fei, Shen, Hui, Wu, Jiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7792061/
https://www.ncbi.nlm.nih.gov/pubmed/33413180
http://dx.doi.org/10.1186/s12879-020-05734-9