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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | DUOX2 |
Boaz Palterer gene: DUOX2 was added gene: DUOX2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DUOX2 was set to Unknown Publications for gene: DUOX2 were set to 38075699; 26301257; 35429653 Phenotypes for gene: DUOX2 were set to Inflammatory bowel disease; IBD; VEOIBD Penetrance for gene: DUOX2 were set to unknown Review for gene: DUOX2 was set to GREEN Added comment: DUOX2 encodes Dual Oxidase 2, an H2O2-producing NADPH oxidase primarily expressed at the apical membranes of enterocytes, where it plays a critical role in maintaining intestinal microbial homeostasis and innate immune defense. While biallelic variants in DUOX2 are classically associated with congenital hypothyroidism (Thyroid dyshormonogenesis 6; OMIM 607200), a distinct phenotype linking DUOX2 deficiency to Inborn Errors of Immunity (IEI) and very early-onset inflammatory bowel disease (VEO-IBD) has been reported in several case reports. The initial association was reported when inactivating missense variants in DUOX2 were identified in VEO-IBD patients, resulting in significantly reduced reactive oxygen species (ROS) production by intestinal epithelial cells and defective host resistance to enteric pathogens like Campylobacter jejuni (Hayes et al., 2015). More recently, the phenotypic spectrum has been expanded to include monogenic neonatal-onset IBD. Patients with compound heterozygous DUOX2 variants have presented with severe intestinal inflammation and colon stenosis shortly after birth, displaying significantly decreased catalytic activity without concurrent clinical hypothyroidism (Finocchi et al, Kyodo et al. Crawford et al. ). Hayes described 2 patient with heterozgous DUOX2 VUS and VEOIBD https://pmc.ncbi.nlm.nih.gov/articles/PMC4539615/ Finocchi et al described 1 month old with VEOIBD with compound heterozygous VUS in DUOX2 https://pubmed.ncbi.nlm.nih.gov/38075699/ Kyodo et al. described 1 year old with VEOIBD with compound heterozygous VUS in DUOX2 https://pubmed.ncbi.nlm.nih.gov/35429653/ Crawford et al, additional case report: 5-year-old male with compound heterozygous VUS in DUOX2 https://rupress.org/jhi/article/1/CIS2025/CIS2025abstract.49/277486/Biallelic-DUOX2-Variants-and-the-Link-to-Very Sources: Literature |
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