IFNγ2-receptor deficiency

The clinical syndrome is rare and is due to impaired immunity against mycobacteria. Parental cosanguinity and familial forms are frequent and the syndrome is often described as Mendelian susceptibility to mycobacterial infection. In most cases the inheritance is autosomal recessive, but also autosomal dominant and X-linked inheritence have been found. A child with disseminated Mycobacterium fortuitum and M. avium complex infections and absent IFNγ signaling was found to due to a mutation in the extracellular domain of IFNγ2-receptor.

Alternative names



IL12/IL23-IFN-gama axis deficiencies

Mendelian susceptibility to mycobacterial infection

Interferon, gamma, transducer 1; IFNGT1

Interferon, gamma, accessory factor for receptor


  • Defects of innate immune system, receptors and signaling components
    • Interferon-γ (IFNγ) receptor deficiency


Autosomal recessive


#209950 Atypical mycobacteriosis, familial

*147569 Interferon, gamma, receptor 2; IFNGR2


Incidence is not known.