Article
Mendelian susceptibility to mycobacterial disease in tuberculosis-hyperendemic South Africa.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 5 Oct 2021
Cornelissen H M, Glanzmann B, Van Coller A, Engelbrecht C, Abraham D R, Reddy K, Möller M, Kinnear C, Glashoff R H, Esser M
Abstract excerpt
BACKGROUND: Severe infections in the absence of secondary immunodeficiency can alert clinicians to single-gene inborn errors of immunity/primary immunodeficiency disorders (PIDDs). Mendelian susceptibility to mycobacterial disease (MSMD) is characterised by selective susceptibility to mycobacterial infections due to inborn errors in the interleukin 12-interferon gamma pathway. The South African (SA) burden of...
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