Interleukin-12 (IL-12) and interferon-gamma (IFN-gamma) pathway is involved in the activation of NK cells, macrophages and other host defenses. An inherited defect in a component of the interferon-gamma and interleukin-12 pathway may make a person more susceptible to certain infectious agents and to autoimmune disorders.
Clinical features:
(1) increased susceptibility to certain infections, including those caused by organisms with low pathogenicity and/or intracellular pathogens
(1a) following immunization BCG (Bacillus Calmette-Guerin)
(1b) environmental atypical mycobacteria
(1c) Salmonella species
(1d) Listeria
(1e) some viruses
(2) increased susceptibility to autoimmune disorders
(3) other family members affected in dominant or recessive pattern of inheritance
Laboratory features - evidence of a defect in a component of the interferon-gamma and interleukin-12 pathway:
