BCGosis and BCGitis occurred in a total of six patients with MSMD; in three patients with IL-12 and IL-23 receptor β1 chain deficiency; in two patients with partial autosomal dominant(AD) defect of IFNGR1; and in one patient with IFNGR deficiency diagnosed by flow cytometry but not confirmed genetically. Here, IFNGR1 is linked to Mendelian susceptibility to mycobacterial diseases.