NOD2/CARD15 Involvement in the Pathogenesis of Crohn's Disease and a Model CaseSstudy

Abstract

The pathogenesis of Crohn’s disease (CD) is not entirely understood due to the variety of clinical presentations and its multi-factorial nature. It has been determined that there is a genetic component to the pathogenesis of the disease, however, the number of genes implicated is large and no single genetic mutation has been identified in affected individuals. Despite these facts, this thesis aims to elucidate a better understanding of one gene of interest, NOD2/CARD15, in the pathogenesis of CD by looking at mutations across different affected populations. The inclusion of a case study illustrates the possible presentation of Crohn’s disease, focusing on certain aspects of diagnosis, treatment, and symptomology. While it does not speak to the genetics of the disease, as this is often not determined, it does demonstrate the gravity of the disease and the need for definitive answers in determining the pathogenesis of Crohn’s disease.