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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.109 | AP1M2 |
Boaz Palterer gene: AP1M2 was added gene: AP1M2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: AP1M2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP1M2 were set to 41451456 Phenotypes for gene: AP1M2 were set to Colitis; Abnormal inflammatory response Penetrance for gene: AP1M2 were set to unknown Review for gene: AP1M2 was set to RED Added comment: 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 |
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