Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

Orpha code: 319547OMIM code: 614889

Definicja

Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, 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 IFNgammaR2 deficiency
Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora 2 dla interferonu gamma
MSMD z powodu całkowitego niedoboru IFNgammaR2
MSMD z powodu całkowitego niedoboru receptora 2 dla interferonu gamma
MSMD due to complete interferon gamma receptor 2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
Kod ORPHA
319547
Kod OMIM
614889
Kod ICD10
D84.8
Kod ICD11
-

No additional description.

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