Article
A rare mutation causing autosomal dominant STAT1 deficiency in a South African multiplex kindred with disseminated BCG infection.
BMC pediatrics - 29 Jul 2023
Greybe Leonore, Leung Daniel, Wieselthaler Nicole, le Roux David M, Chan Koon Wing, Lau Yu Lung, Eley Brian
Abstract excerpt
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 Africa (SSA) where routine birth BCG vaccination is practiced. CASE PRESENTATION: Two half-siblings presented five years...
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