A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI)

J Allergy Clin Immunol. 2020 Nov;146(5):1204-1208.e6. doi: 10.1016/j.jaci.2020.06.032. Epub 2020 Jul 13.
No abstract available

Publication types

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

MeSH terms

  • Age of Onset
  • Arabs
  • Cough
  • Fatal Outcome
  • Fever
  • Genes, Recessive
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Pedigree
  • Respiratory Insufficiency
  • Tachypnea
  • Vascular Diseases / epidemiology
  • Vascular Diseases / genetics*

Substances

  • Membrane Proteins
  • STING1 protein, human