label: IL12RB1-Associated Immunodeficiency
label_lc: il12rb1-associated immunodeficiency
description: "An autosomal recessive condition caused by mutation(s) in the IL12RB1 gene, encoding interleukin-12 receptor subunit beta-1. It is characterized by a susceptibility to mycobacterial disease. IL12RB1 associated with IL12RB2 results in a high affinity receptor for IL12. IL12RB1 combined with IL23R forms the interleukin-23 receptor."