Monogenic Inflammatory bowel disease - understanding key nodes of mucosal homeostasis

Tue23  Feb11:15am(20 mins)
Conference Room 2
 Holm Uhlig


Inflammatory bowel diseases are a complex and diverse group of disorders. Whereas the disease in the majority of patients are caused by a polygenic contribution, in a small fraction of patients a single gene can cause intestinal inflammation. A systematic analysis of the group of monogenic diseases suggests a diverse role of epithelial cells maintaining the epithelial barrier function but also defects in antimicrobial activity of phagocytes, hyperinflammatory defects, defective immune regulation. We will discuss a taxonomy of inflammatory disease and how rare genetic defects can inform on subgroups of classical polygenic disease.

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