BIRC3 (Encoding Cellular Inhibitor of Apoptosis Protein 2) Variants Result in Dysregulated Receptor-Interacting Protein Kinase 1 Signaling Leading to Increased Epithelial Cell Death and Are Associated With Monogenic Crohn's Disease
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The authors investigate the role of BIRC3 gene variants in monogenic Crohn's disease (CD) and their impact on receptor-interacting protein kinase 1 (RIPK1) signaling. They identify rare BIRC3 variants in patients with CD, demonstrating that these variants lead to dysregulated RIPK1 signaling and increased epithelial cell death, ultimately contributing to intestinal inflammation. The study highlights RIPK1 as a potential therapeutic target for treating BIRC3 deficiency-related CD.
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