1jrh
From Proteopedia
Contents |
COMPLEX (ANTIBODY/ANTIGEN)
Template:ABSTRACT PUBMED 9367779
Disease
[INGR1_HUMAN] Defects in IFNGR1 are a cause of Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]; also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.[1][2]
Function
[INGR1_HUMAN] Receptor for interferon gamma. Two receptors bind one interferon gamma dimer.
About this Structure
1jrh is a 3 chain structure with sequence from Homo sapiens and Mus musculus. Full crystallographic information is available from OCA.
Reference
- Sogabe S, Stuart F, Henke C, Bridges A, Williams G, Birch A, Winkler FK, Robinson JA. Neutralizing epitopes on the extracellular interferon gamma receptor (IFNgammaR) alpha-chain characterized by homolog scanning mutagenesis and X-ray crystal structure of the A6 fab-IFNgammaR1-108 complex. J Mol Biol. 1997 Nov 7;273(4):882-97. PMID:9367779 doi:10.1006/jmbi.1997.1336
- ↑ Jouanguy E, Lamhamedi-Cherradi S, Altare F, Fondaneche MC, Tuerlinckx D, Blanche S, Emile JF, Gaillard JL, Schreiber R, Levin M, Fischer A, Hivroz C, Casanova JL. Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J Clin Invest. 1997 Dec 1;100(11):2658-64. PMID:9389728 doi:10.1172/JCI119810
- ↑ Jouanguy E, Dupuis S, Pallier A, Doffinger R, Fondaneche MC, Fieschi C, Lamhamedi-Cherradi S, Altare F, Emile JF, Lutz P, Bordigoni P, Cokugras H, Akcakaya N, Landman-Parker J, Donnadieu J, Camcioglu Y, Casanova JL. In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. J Clin Invest. 2000 May;105(10):1429-36. PMID:10811850 doi:10.1172/JCI9166
