3qb7: Difference between revisions
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{{STRUCTURE_3qb7| PDB=3qb7 | SCENE= }} | {{STRUCTURE_3qb7| PDB=3qb7 | SCENE= }} | ||
===Interleukin-4 mutant RGA bound to cytokine receptor common gamma=== | |||
{{ABSTRACT_PUBMED_23103943}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/IL2RG_HUMAN IL2RG_HUMAN]] Defects in IL2RG are the cause of severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:[http://omim.org/entry/300400 300400]]; also known as agammaglobulinemia Swiss type. A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.<ref>PMID:8401490</ref><ref>PMID:8299698</ref><ref>PMID:8088810</ref><ref>PMID:8027558</ref><ref>PMID:7937790</ref><ref>PMID:7668284</ref><ref>PMID:7557965</ref><ref>PMID:7860773</ref><ref>PMID:8900089</ref><ref>PMID:9150740</ref> Defects in IL2RG are the cause of X-linked combined immunodeficiency (XCID) [MIM:[http://omim.org/entry/312863 312863]]. XCID is a less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID.<ref>PMID:7883965</ref><ref>PMID:9399950</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/IL2RG_HUMAN IL2RG_HUMAN]] Common subunit for the receptors for a variety of interleukins. | |||
==About this Structure== | ==About this Structure== | ||
[[3qb7]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3QB7 OCA]. | [[3qb7]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3QB7 OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Bates, D L.]] | [[Category: Bates, D L.]] | ||