A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM).
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immunodeficiency 27A
MONDO:0008856
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
MONDO:0013954
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
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Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
MONDO:0013956
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
MONDO:0013957
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
MONDO:0014429