Article
Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa.
BMC immunology - 13 Sept 2021
van Coller Ansia, Glanzmann Brigitte, Cornelissen Helena, Möller Marlo, Kinnear Craig, Esser Monika, Glashoff Richard
Abstract excerpt
BACKGROUND: Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a primary immunodeficiency (PID) characterised by a predisposition to infection by weakly-pathogenic mycobacteria. In countries with a high prevalence of tuberculosis (TB), individuals with MSMD are also prone to infections by Mycobacterium tuberculosis. Several MSMD-associated genes have been described, all resulting in a disruption of IL-12...
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