319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

definition Autosomal recessive mendelian susceptibility to mycobacterial disease (MSMD) due to a partial deficiency describes a group of genetic variants of MSMD (see this term) due to autosomal recessive mutations in the IFNGR1 and IFNGR2 genes which lead to a residual response of IFN-gamma.