Six cases (37.5%) had chronic granulomatous disease (CGD) due to CYBB gene mutations, 2 cases (12.5%) had Mendelian susceptibility to mycobacterial disease (MSMD) due to IL12RB1 mutations, and 1 case (6.25%) had a FADD gene mutation. Here, IL12RB1 is linked to Mendelian susceptibility to mycobacterial diseases.