The IL10RB gene encodes for IL10Rβ. IL10Rβ is the signaling subunit of the IL10R complex that binds IL10. IL10 signaling functions as an anti-inflammatory pathway that can inhibit proinflammatory responses of both innate and adaptive immune cells. Inflammatory bowel disease 25, early onset, autosomal recessive presents as very early onset IBD. A total of 10 variants, including nonsense and missense, have been reported in 5 patients in 3 publications (PMID: 28267044, 23158016, 19890111). 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. Mice with IL10/IL10 receptor deficiency recapitulate the severe intestinal inflammation and cellular phenotypes seen in patients with IL10RB deficiency. 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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