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

Nisha Garg, Ozgur Kasapcopur, Joseph Foster, Kenan Barut, Ayşe Tekin, Osman Kızılkılıç, Mustafa Tekin

Research output: Contribution to journalArticle

41 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)827-830
Number of pages4
JournalEuropean Journal of Pediatrics
Volume173
Issue number6
DOIs
StatePublished - Jun 2014

Keywords

  • Adenosine deaminase 2
  • CECR1 gene
  • Polyarteritis nodosa
  • Vasculitis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Garg, N., Kasapcopur, O., Foster, J., Barut, K., Tekin, A., Kızılkılıç, O., & Tekin, M. (2014). Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. European Journal of Pediatrics, 173(6), 827-830. https://doi.org/10.1007/s00431-014-2320-8