Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy
European Journal of Pediatrics, cilt.173, sa.6, ss.827-830, 2014 (SCI-Expanded, Scopus)
- 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
- Anahtar Kelimeler: Adenosine deaminase 2, CECR1 gene, Polyarteritis nodosa, Vasculitis, POLYARTERITIS-NODOSA, ADA2
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Hayır
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. © 2014 Springer-Verlag.