Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
ORPHA:319539
Definition
A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to autosomal recessive mutations in the IFNGR1 and IFNGR2 genes which lead to a residual response of IFN-gamma.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages