| Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) |
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency |
| Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial IFNgammaR2 deficiency
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| A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of 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. Only one patient has been reported with this variant to date. 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. Transmission is autosomal recessive. |
| autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële deficientie van interferon-gammareceptor-2 |
| autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële interferon-gamma-receptor-2-deficiëntie
autosomaal recessieve 'mendelian susceptibility to mycobacterial disease' door partiële IFNGR2-deficiëntie
autosomaal recessieve MSMD door partiële IFN-gamma-R2-deficiëntie
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