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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.23 | GPR15 |
Boaz Palterer gene: GPR15 was added gene: GPR15 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: GPR15 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GPR15 were set to 42259915 Phenotypes for gene: GPR15 were set to Inflammatory bowel disease; IBD; VEOIBD Penetrance for gene: GPR15 were set to Incomplete Review for gene: GPR15 was set to RED Added comment: Cui et al. described multiple patients from multiple kindreds, harboring homozygous or compound heterozygous mutations in the GPR15 gene. They presented with severe early-onset inflammatory bowel disease. The underlying mechanism and phenotype were validated in vivo using complete Gpr15 knockout (KO) mouse models, demonstrating impaired colonic homing of regulatory CD8+ TIGR cells, an accumulation of inflammatory macrophages, and increased susceptibility to colitis. Sources: Literature |
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