Interleukin-10 receptor subunit alpha
The IL10RA gene encodes a component of the interleukin 10 receptor which is involved in IL10 signal transduction. Mutations cause autosomal recessive IL10R-Deficiency wich presents as inflammatory bowel disease 28.
Genetests:
Related Diseases:
References:
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Glocker EO et. al. (2009) Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
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Begue B et. al. (2011) Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.
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Zigmond E et. al. (2014) Macrophage-restricted interleukin-10 receptor deficiency, but not IL-10 deficiency, causes severe spontaneous colitis.
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Taniyama T et. al. (1995) The human interleukin-10 receptor gene maps to chromosome 11q23.3.
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Liu Y et. al. (1994) Expression cloning and characterization of a human IL-10 receptor.
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Ho AS et. al. (1993) A receptor for interleukin 10 is related to interferon receptors.
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Tan JC et. al. (1993) Characterization of interleukin-10 receptors on human and mouse cells.
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Gasche C et. al. (2003) Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production.
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Mao H et. al. (2012) Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.
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Update: Aug. 14, 2020