Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar2 Deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).

Epidemiology

The prevalence is unknown. Only one patient has been reported with this variant to date.

Clinical description

The patient presented with a mild infection caused by BCG and M. abscessus.

Etiology

Autosomal recessive MSMD due to partial IFNgammaR2 deficiency is caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain. This mutation leads to a residual cellular response to IFN-gamma in terms of IL12p40 production.

Genetic counseling

Transmission is autosomal recessive and genetic counseling is possible.