Interleukin-12 (IL-12) p40 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.

Alternative names

IL12 p40 deficiency


  • Defects of innate immune system, receptors and signaling components


Autosomal recessive


#209950 Atypical mycobacteriosis, familial

*161561 Interleukin 12B; IL12B


Incidence is not known.