Article
Challenges of Diagnosing Mendelian Susceptibility to Mycobacterial Diseases in South Africa.
International journal of molecular sciences - 28 Jul 2023
Scholtz Denise, Jooste Tracey, Möller Marlo, van Coller Ansia, Kinnear Craig, Glanzmann Brigitte
Abstract excerpt
Inborn errors of immunity (IEI) are genetic disorders with extensive clinical presentations. They can range from increased susceptibility to infections to significant immune dysregulation that results in immune impairment. While IEI cases are individually rare, they collectively represent a significant burden of disease, especially in developing countries such as South Africa, where infectious diseases like...
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