IL12RB1-Associated Immunodeficiency

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - IL-12 Receptor B Deficiency - IL12RB1 Deficiency - IMD30 - Immunodeficiency 30