First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease

Gastroenterology. 2017 Aug;153(2):609-611.e3. doi: 10.1053/j.gastro.2016.12.053. Epub 2017 Jul 3.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Anti-Inflammatory Agents / therapeutic use
  • Child, Preschool
  • DNA Mutational Analysis
  • Dual Oxidases / genetics*
  • Gastrointestinal Agents / therapeutic use
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Inflammatory Bowel Diseases / diagnosis
  • Inflammatory Bowel Diseases / drug therapy
  • Inflammatory Bowel Diseases / enzymology
  • Inflammatory Bowel Diseases / genetics*
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Remission Induction
  • Risk Factors
  • Treatment Outcome

Substances

  • Anti-Inflammatory Agents
  • Gastrointestinal Agents
  • Dual Oxidases
  • DUOX2 protein, human