Interleukin-12 receptor β1 deficiency

IL12 is a cytokine secreted by phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of two subunits encoded by IL12A and IL12B. The clinical syndrome is rare and its inheritance may differ between kindreds. Although autosomal recessive in most cases, autosomal dominant and X-linked recessive inheritance have been reported. These disorders generally manifest in childhood, although they may become apparent during adulthood. IL12RB1 deficiency is associated with immunity impairment which leads to a predisposition to severe mycobacterial and salmonella infections in otherwise healthy individuals.

Alternative names

IL12Rβ1 deficiency

Mendelian susceptibility to mycobacterial infections due to IL12 deficiency


  • Defects of innate immune system, receptors and signaling components


Autosomal recessive


#209950 Atypical mycobacteriosis, familial

*601604 Interleukin 12 receptor, beta-1; IL12RB1


Incidence is not known.