Early- Onset Stroke and Vasculopathy Associated with Mutations in ADA2


Zhou Q., Yang D., Ombrello A. K. , Zavialov A. V. , Toro C., Zavialov A. V. , ...More

NEW ENGLAND JOURNAL OF MEDICINE, vol.370, no.10, pp.911-920, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 370 Issue: 10
  • Publication Date: 2014
  • Doi Number: 10.1056/nejmoa1307361
  • Title of Journal : NEW ENGLAND JOURNAL OF MEDICINE
  • Page Numbers: pp.911-920

Abstract

BackgroundWe observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because the disorder presented in early childhood.