Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: GPR15

Red List (low evidence)

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

Created: 9 Jul 2026, 7:05 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Inflammatory bowel disease; IBD; VEOIBD

Publications

• 42259915