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

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

Abstract 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-Sahar...

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Bibliographic Details
Main Authors: Leonore Greybe, Daniel Leung, Nicole Wieselthaler, David M le Roux, Koon Wing Chan, Yu Lung Lau, Brian Eley
Format: Article
Language:English
Published: BMC 2023-07-01
Series:BMC Pediatrics
Subjects:
BCG complications
BCG osteomyelitis
Disseminated BCG
STAT1 deficiency
STAT1 mutation
MSMD
Online Access:https://doi.org/10.1186/s12887-023-04206-8

Internet

https://doi.org/10.1186/s12887-023-04206-8

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