Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy


Garg N. , Kasapcopur O., Foster J., Barut K., Tekin A., Kizilkilic O., ...More

EUROPEAN JOURNAL OF PEDIATRICS, vol.173, no.6, pp.827-830, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 173 Issue: 6
  • Publication Date: 2014
  • Doi Number: 10.1007/s00431-014-2320-8
  • Title of Journal : EUROPEAN JOURNAL OF PEDIATRICS
  • Page Numbers: pp.827-830

Abstract

Adenosine deaminase 2 (ADA2) deficiency due to CECR1 mutations is a recently defined disorder that involves systemic inflammation and vasculopathy often associated with polyarteritis nodosa. We report on a 5-year-old girl with a severe vasculopathy who carried two novel mutations in CECR1. Conclusion: Identification of CECR1 mutations in patients with vasculopathy may lead to earlier diagnosis of ADA2 deficiency.