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

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

EUROPEAN JOURNAL OF PEDIATRICS, cilt.173, sa.6, ss.827-830, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 173 Sayı: 6
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1007/s00431-014-2320-8
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.827-830
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.