Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

Orpha code: 99898OMIM code: 209950

Definicja

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
Klasyfikacja

Disease

Synonimy
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
Kod ORPHA
99898
Kod OMIM
209950
Kod ICD10
D84.8
Kod ICD11
-

No additional description.

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