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Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis.

Jodie D OuahedAlexandra GriffithLauren V CollenScott B Snapper
Published in: Inflammatory bowel diseases (2024)
Monogenic causes of inflammatory bowel diseases (IBD) are increasingly being discovered. To date, much attention has been placed in those resulting from inborn errors of immunity. Therapeutic efforts have been largely focused on offering personalized immune modulation or curative bone marrow transplant for patients with IBD and underlying immune disorders. To date, less emphasis has been placed on monogenic causes of IBD that pertain to impairment of the intestinal epithelial barrier. Here, we provide a comprehensive review of monogenic causes of IBD that result in impaired intestinal epithelial barrier that are categorized into 6 important functions: (1) epithelial cell organization, (2) epithelial cell intrinsic functions, (3) epithelial cell apoptosis and necroptosis, (4) complement activation, (5) epithelial cell signaling, and (6) control of RNA degradation products. We illustrate how impairment of any of these categories can result in IBD. This work reviews the current understanding of the genes involved in maintaining the intestinal barrier, the inheritance patterns that result in dysfunction, features of IBD resulting from these disorders, and pertinent translational work in this field.
Keyphrases
  • ulcerative colitis
  • bone marrow
  • oxidative stress
  • emergency department
  • randomized controlled trial
  • gene expression
  • working memory
  • rectal cancer
  • patient safety
  • quality improvement
  • prognostic factors