The IL10RA gene encodes for IL10Rα. IL10Rα is the ligand binding subunit of the IL10R receptor complex in hematopoietic cells. L10 signaling functions as an anti-inflammatory pathway that can inhibit proinflammatory responses of both innate and adaptive immune cells. Inflammatory bowel disease 28, early onset, autosomal recessive (MONDO: 0013153) presents as very onset IBD. A total of 22 variants, including nonsense and missense, have been reported in 11 patients in 4 publications (PMID: 19890111, 25373860, 23158016, 28267044). Variants were found to be inherited in an autosomal recessive manner, variants segregate with disease, and the disease mechanism is suggested to be loss of function. Experimental evidence includes reduction of IL10RB expression and IL10 signaling in the patients’ cells and loss of Il-10 response in LPS stimulated PBMCs. Cells carrying the IL10RA G141R mutation secreted increased levels of TNF- α; TGF-β1; interleukin-1 α, -1β, -2, and -6; soluble receptor of interleukin-6. IL10R−/− mice. Animals develop a disease that appears largely to depend upon an inappropriate immune response to intestinal antigens, and recapitulate human disease. Reports included in the curation span the time period from 2009 until present, therefore the classification is definitive.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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