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Article

Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report.

Clinical immunology (Orlando, Fla.) - 1 May 2022

Kyodo Reiko, Takeuchi Ichiro, Narumi Satoshi, Shimizu Hirotaka, Hata Kenichiro, Yoshioka Takako, Tanase-Nakao Kanako, Shimizu Toshiaki, Arai Katsuhiro

Abstract excerpt

Genetic variants affecting the function of dual oxidase 2 (DUOX2), the catalytic subunit of membrane-bound enzymes that produce hydrogen peroxide, are associated with very early-onset inflammatory bowel disease (VEO-IBD). We report the case of a 1-year-old boy diagnosed with VEO-IBD after presenting with bloody diarrhea. He had pancolitis and an extensive small intestinal ulcerative lesion at age 4 years....

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PMID: 35429653
DOI: 10.1016/j.clim.2022.109015

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