A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection

BACKGROUND: Autosomal dominant signal transducer and activator of transcription 1 (STAT1) deficiency, part of the Mendelian susceptibility to mycobacterial disease (MSMD) group, frequently causes disseminated Bacillus Calmette-Guérin (BCG) infections, but has not been reported from Sub-Saharan Afric...

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Detalles Bibliográficos
Autores principales: Greybe, Leonore, Leung, Daniel, Wieselthaler, Nicole, le Roux, David M, Chan, Koon Wing, Lau, Yu Lung, Eley, Brian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10386767/
https://www.ncbi.nlm.nih.gov/pubmed/37516851
http://dx.doi.org/10.1186/s12887-023-04206-8

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