A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occurring in males.
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immunodeficiency 27A
MONDO:0008856
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
MONDO:0010389
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