Interferon-gamma receptor
Chr. 6 q23-q24 | |||||||
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Chr. 21 q22.1 | |||||||
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The interferon-gamma receptor (IFNGR)
interferon type II
.
Structure and function
The human interferon-gamma receptor complex consists the
transcription
.
Disease linkage
IFNGR1 deficiency is associated with the increased susceptibility to certain infectious diseases in patients, especially mycobacterial infections.[4][5]
Mutations
Disseminated
mycobacteria. Th1 responses appeared to be normal in these patients. The susceptibility of these children to mycobacterial infections thus apparently results from an intrinsic impairment of the IFNγ pathway response to these particular intracellular pathogens, showing that IFNγ is obligatory for efficient macrophage antimycobacterial activity. Since the initial discoveries of IFNγR1-deficient humans, many more examples have been found, and IFNγR2-deficient individuals have been found as well.[8][9]
References
- PMID 10986460.
- PMID 9143700.
- PMID 9462485.
- S2CID 27637137.
- S2CID 28602598.
- ^ Jouanguy E, Altare F, Lamhamedi S, et al. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med. 1996;335:1956–1961.
- ^ . Newport MJ, Huxley CM, Huston S, et al. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med. 1996;335:1941–1949.
- ^ . Dorman SE, Holland SM. Interferon-gamma and interleukin-12 pathway defects and human disease. Cytokine Growth Factor Rev. 2000;11(4):321–333.
- ^ Newport MJ, Holland SM, Levin M, et al. Inherited disorders of the interleukin-12/23-interferon gamma axis. In: Ochs HD, Smith CIE, Puck JM, e eds. Primary immunodeficiency diseases: a molecular and genetic approach. Oxford: Oxford University Press, 2007: 390–401.
See also
- Interferon-γ Receptor-1 and 2 Mutations
- Interferon gamma receptor (IFNGR1) family