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 language | English (US) |
|---|---|
| Pages (from-to) | 827-830 |
| Number of pages | 4 |
| Journal | European Journal of Pediatrics |
| Volume | 173 |
| Issue number | 6 |
| DOIs | |
| State | Published - 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