Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2.

ABSTRACT: Very Early Onset Inflammatory Bowel Disease (VEO-IBD) is potentially associated with genetic disorders of the intestinal epithelial barrier or inborn errors of immunity (IEI). Dual oxidase 2 (DUOX2), an H₂O₂-producing NADPH oxidase expressed at apical enterocyte membranes, plays a crucial role in innate defense response. Biallelic DUOX2 mutations have been described only in two patients with VEO-IBD to date. We report the case of a 1-month-old female infant who presented persistent high C-reactive protein (CRP) levels from birth and anemia. Positive occult blood and very high calprotectin in the stool were detected and abdominal ultrasound showed thickened last ileal loop. Full endoscopy evaluation revealed important colon stenosis with multiple pseudo-polyploi

SUBMITTER: Finocchi A 

PROVIDER: S-EPMC10701422 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature