Autoinflammatory & rare systemic diseases
Deficiency of AP1M2 Causes a New Autoinflammatory Disease With Colitis
Authors' conclusion
This study identifies the deficiency of AP1M2 as the cause of a new autoinflammatory disease with colitis and highlights the critical function of AP-1 in suppressing NF-κB activation and chemokine production.
Study context
- Population
- A patient with a biallelic loss-of-function AP1M2 variant with autoinflammatory disease with colitis; Ap1m2-deficient mice and DLD-1 cellsone patient
- Comparison
- Ap1m2-/- mice vs Ap1m2-/-::Tnfr1-/- mice
Methodological detailscase report with genetic diagnosis, knockout mouse model, Stereo-seq
- Case report with genetic diagnosis
- Knockout mouse model
- Stereo-seq
Main finding
As reported in the abstract
- Ap1m2-/- mice had elevated serum chemokine production and spontaneously developed intestinal inflammation, phenocopying the patient with the AP1M2 variant
- Intestinal epithelial AP1M2 deficiency caused accumulation of TNFR1-signaling downstream proteins (RIPK1, TBK1, IKKα/β, NEMO), enhancing NF-κB activation and chemokine overproduction
- Tnfr1 knockout rescued gastrointestinal inflammation induced by Ap1m2 deficiency by suppressing NF-κB activation and chemokine production
Original publication
Deficiency of AP1M2 Causes a New Autoinflammatory Disease With Colitis. Arthritis Rheumatol. Published 26 March 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →