Challenges of Diagnosing Mendelian Susceptibility to Mycobacterial Diseases in South Africa
Denise Scholtz,
Tracey Jooste,
Marlo Möller
et al.
Abstract: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 tuberculosis (TB) are endemic. This is particularly alarming considering that certain high penetrance mu… Show more
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