1jrh: Difference between revisions
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{{STRUCTURE_1jrh| PDB=1jrh | SCENE= }} | {{STRUCTURE_1jrh| PDB=1jrh | SCENE= }} | ||
===COMPLEX (ANTIBODY/ANTIGEN)=== | |||
{{ABSTRACT_PUBMED_9367779}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/INGR1_HUMAN INGR1_HUMAN]] Defects in IFNGR1 are a cause of Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:[http://omim.org/entry/209950 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.<ref>PMID:9389728</ref><ref>PMID:10811850</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/INGR1_HUMAN INGR1_HUMAN]] Receptor for interferon gamma. Two receptors bind one interferon gamma dimer. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:009367779</ref><references group="xtra"/> | <ref group="xtra">PMID:009367779</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Mus musculus]] | [[Category: Mus musculus]] | ||
