Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Orpha code: 319574OMIM code: 614889

Definition

Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM).

Disease data
Classification

Disease

Synonyms
Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru receptora 2 interferonu gamma
Autosomalna recesywna MSMD z powodu częściowego niedoboru IFNgammaR2
Autosomalna recesywna MSMD z powodu częściowego niedoboru receptora 2 interferonu gamma
Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
ORPHA code
319574
OMIM code
614889
ICD10 code
D84.8
ICD11 code
-

No additional description.

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