A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, 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
MONDO:0013955
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
MONDO:0013956
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
MONDO:0013957
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
MONDO:0014502