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Updated: Sep 6, 2025

Chronic Salmonella Infection Induced Intestinal Fibrosis
Published on: September 22, 2019
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical
Aline Azabdaftari1, Kelsey D J Jones2,3, Jochen Kammermeier4
1Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Abstract:
Over 100 genes are associated with monogenic forms of inflammatory bowel disease (IBD). These genes affect the epithelial barrier function, innate and adaptive immunity in the intestine, and immune tolerance. We provide an overview of newly discovered monogenic IBD genes and illustrate how a recently proposed taxonomy model can integrate phenotypes and shared pathways. We discuss how functional understanding of genetic disorders and clinical genomics supports personalised medicine for patients with monogenic IBD.
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