A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and consequently to recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by a heterozygous mutation in the IFNGR2 gene on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain 2. The 186delC mutation corresponds to the first mutation conferring an AD partial IFN-gammaR2 deficiency.
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3439521013
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency
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3439522018
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial IFNgammaR2 deficiency