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Mendelian susceptibility to mycobacterial disease (MSMD) is a group of rare genetic disorders characterized by increased susceptibility to infections with low-virulent mycobacteria like the Bacillus Calmette-Guérin (BCG) vaccines and the nontubercular environmental mycobacteria. These patients are also at increased risk of infections with non-typhoidal Salmonella, Candida, and Mycobacterium tuberculosis. In this article, we provide a clinical and laboratory approach to the diagnosis of MSMD. Various genetic defects causing MSMD and their treatment have been discussed.

Mendelian Susceptibility to Mycobacterial Disease: A Clinical and Laboratory Approach