MCTS1 and Mendelian susceptibility to mycobacterial diseases: The enrichment of these MCTS1 pLOF variants in our male MSMD cohort without genetic diagnosis (n = 422, 5 pLOF variants) relative to a cohort comprising both male patients without mycobacterial infections and healthy male individuals (n = 1,932, 0 pLOF variants) was highly significant (p = 0.00013).