Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation

J Clin Immunol. 2018 May;38(4):468-470. doi: 10.1007/s10875-018-0513-z. Epub 2018 May 26.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aorta / diagnostic imaging
  • Aorta / metabolism*
  • Aorta / pathology*
  • Biomarkers
  • Child
  • Female
  • Gain of Function Mutation*
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Humans
  • STAT1 Transcription Factor / genetics*
  • Tomography, X-Ray Computed
  • Vascular Calcification / diagnosis*
  • Vascular Calcification / genetics*
  • Vascular Calcification / metabolism

Substances

  • Biomarkers
  • STAT1 Transcription Factor
  • STAT1 protein, human