Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signaling Via STAT and Very Early Onset Intestinal Inflammation

Gastroenterology. 2020 Nov;159(5):1968-1971.e4. doi: 10.1053/j.gastro.2020.07.040. Epub 2020 Jul 25.
No abstract available

Keywords: Autoimmunity; Immune Regulation; PTPN2; VEO-IBD.

Publication types

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

MeSH terms

  • Age of Onset
  • Child, Preschool
  • Duodenum / drug effects
  • Duodenum / enzymology*
  • Duodenum / pathology
  • Enzyme Activation
  • Female
  • Genetic Predisposition to Disease
  • HEK293 Cells
  • Humans
  • Inflammatory Bowel Diseases / diagnosis
  • Inflammatory Bowel Diseases / enzymology
  • Inflammatory Bowel Diseases / genetics*
  • Janus Kinase Inhibitors / pharmacology
  • Janus Kinases / antagonists & inhibitors
  • Janus Kinases / metabolism*
  • Jurkat Cells
  • Loss of Function Mutation*
  • Nitriles
  • Phenotype
  • Phosphorylation
  • Protein Tyrosine Phosphatase, Non-Receptor Type 2 / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 2 / metabolism
  • Pyrazoles / pharmacology
  • Pyrimidines
  • STAT1 Transcription Factor / metabolism*
  • STAT3 Transcription Factor / metabolism*
  • Signal Transduction

Substances

  • Janus Kinase Inhibitors
  • Nitriles
  • Pyrazoles
  • Pyrimidines
  • STAT1 Transcription Factor
  • STAT1 protein, human
  • STAT3 Transcription Factor
  • STAT3 protein, human
  • ruxolitinib
  • Janus Kinases
  • PTPN2 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 2