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.
- Adenosine deaminase 2
- CECR1 gene
- Polyarteritis nodosa
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health