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

23 Nov 2023

Abstract excerpt

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...

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PMID: 38075699
DOI: 10.3389/fgene.2023.1276697

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