A89 FUNCTIONAL ANALYSIS OF NEUTROPHIL CYTOSOLIC FACTOR 4 (NCF4) IN THE PATHOGENESIS OF PEDIATRIC INFLAMMATORY BOWEL DISEASE

摘要

BackgroundInflammatory bowel disease (IBD) can arise because of various genetic, environmental, immunological and microbial factors, however, the precise pathological mechanisms leading to IBD remains elusive. Recent advances in genomics have identified multiple genes that cause monogenic IBD. Genetic variants in the Nicotinamide Adenine Dinucleotide Phosphate (NADPH) oxidase have been reported to increase susceptibility of Very Early Onset Inflammatory Bowel Disease (VEOIBD). This multi-protein enzyme complex is involved in the production of superoxide anions (O2^-), causing a respiratory burst that leads to the formation of hydrogen peroxide and hypochlorous acid for bactericidal activity. A notable histopathological feature of a subset of Crohn’s Disease (CD) patients is the formation of granulomas in the gastrointestinal (GI) tract. This is also commonly seen in Chronic Granulomatous Disease (CGD). CGD patients are unable to mount a respiratory burst to defend against bacterial infections.