Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). Disease data Classification Disease Synonyms MSMD due to complete IFNgammaR1 deficiency Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora 1 interferonu gamma MSMD z powodu całkowitego niedoboru IFNgammaR1 MSMD z powodu całkowitego niedoboru receptora 1 interferonu gamma MSMD due to complete interferon gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency ORPHA code 99898 OMIM code 209950 ICD10 code D84.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl