IFNGR1

Interferon gamma receptor 1 ;
IFN-gamma receptor 1 ;
IFN-gamma-R1 ;
CDw119 ;
CD antigen CD119 ;

disease: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. ,function:Receptor for interferon gamma. Two receptors bind one interferon gamma dimer. ,online information:IFNGR1 mutation db ,polymorphism:A genetic variation in the IFNGR1 gene is associated with susceptibility to Helicobacter pylori infection [MIM:600263]. ,PTM:Phosphorylated at Ser/Thr residues. ,similarity:Belongs to the type II cytokine receptor family. ,similarity:Contains 2 fibronectin type-III domains. ,similarity:Contains 2 Ig-like C2-type (immunoglobulin-like) domains. ,subunit:Monomer. ,

response to virus ,

Cell membrane ; Single-pass type I membrane protein .