Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: AP1M2

Red List (low evidence)

Jin et al. described 1 patient from 1 kindred, harboring biallelic mutations in the AP1M2 gene. They presented with an autoinflammatory disease and colitis. The underlying mechanism and phenotype were validated in vitro and in vivo using patient-derived samples and KO mouse models, demonstrating a loss of AP-1-mediated suppression of NF-κB activation and excessive chemokine production. The autoinflammatory and colitis phenotype was successfully recreated with complete knockout (KO) models.
Sources: Literature

Created: 7 Oct 2026, 3:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Colitis; Abnormal inflammatory response

Publications

• 41451456