In this study, we identified three novel compound heterozygous mutations in IL12RB1 gene (c.635G > A, c.765delG; c.632G > C, c.847C > T; c.64G > A, c.1673insGAGCTTCCTGAG) in three unrelated patients with MSMD. The gene discussed is IL12RB1; the disease is Mendelian susceptibility to mycobacterial diseases.