Very early onset inflammatory bowel disease with compound heterozygous variants in Nuclear Factor of Activated T cell 5

Eur J Immunol. 2021 Apr;51(4):999-1001. doi: 10.1002/eji.202048602. Epub 2021 Feb 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Age of Onset
  • Base Sequence
  • Exome Sequencing / methods*
  • Family Health
  • Female
  • Heterozygote
  • Humans
  • Inflammatory Bowel Diseases / diagnosis
  • Inflammatory Bowel Diseases / genetics*
  • Mutation*
  • Pedigree
  • Transcription Factors / genetics*

Substances

  • NFAT5 protein, human
  • Transcription Factors