Zhou XP et al (68) identified three novel compound heterozygous mutations in the IL12RB1 gene (c.635G>A, c.765delG; c.632G>C, c.847C>T; c.64G>A, c.1673insGAGCTTCCTGAG) in three Chinese families with MSMD. This evidence concerns the gene IL12RB1 and Mendelian susceptibility to mycobacterial diseases.