Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

Orpha code: 319547OMIM code: 614889

Definition

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
Classification

Disease

Synonyms
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
ORPHA code
319547
OMIM code
614889
ICD10 code
D84.8
ICD11 code
-

No additional description.

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