Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 Mutation

J Pediatr Gastroenterol Nutr. 2020 Oct;71(4):e132-e133. doi: 10.1097/MPG.0000000000002854.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gain of Function Mutation*
  • Humans
  • Infant
  • Inflammatory Bowel Diseases* / drug therapy
  • Inflammatory Bowel Diseases* / genetics
  • Mutation
  • Nitriles
  • Pyrazoles / therapeutic use
  • Pyrimidines
  • STAT1 Transcription Factor / genetics

Substances

  • Nitriles
  • Pyrazoles
  • Pyrimidines
  • STAT1 Transcription Factor
  • STAT1 protein, human
  • ruxolitinib