| Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) |
| Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency |
| Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial IFNgammaR1 deficiency
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| A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial deficiency leading to impaired IFN-gamma immunity and consequently recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by heterozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. Microdeletion 818del4 is by far the most common mutation and it corresponds to the first documented hotspot for a microdeletion in the human genome. It leads to the expression of IFN-gamma receptor on the cell surface with no signal transduction and therefore patients only show a partial response to IFN-gamma. Transmission is autosomal dominant. |
| autosomaal dominante mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële deficientie van interferon-gammareceptor-1 |
| autosomaal dominante mendeliaanse gevoeligheid voor mycobacteriële ziekte door partiële interferon-gamma-receptor-1-deficiëntie
autosomaal dominante 'mendelian susceptibility to mycobacterial disease' door partiële IFNGR1-deficiëntie
autosomaal dominante MSMD door partiële IFN-gamma-R1-deficiëntie
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