A heterozygous dominant-negative mutation in the coiled-coil domain of STAT1 is the cause of autosomal-dominant Mendelian susceptibility to mycobacterial diseases
Keywords: AD-MSMD; autosomal-dominant Mendelian susceptibility to mycobacterial diseases; GAS; gamma-activated sequence; ISRE; IFN-stimulated response element; WT; wild-type; CCD; coiled-coil domain; DBD; DNA-binding domain; PBMC; peripheral blood mononuclear cells