• Eur. J. Pediatr. · Jun 2014

    Case Reports

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

    • Nisha Garg, Ozgur Kasapcopur, Joseph Foster, Kenan Barut, Ayşe Tekin, Osman Kızılkılıç, and Mustafa Tekin.
    • Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA, nishagarg@med.miami.edu.
    • Eur. J. Pediatr. 2014 Jun 1;173(6):827-30.

    UnlabelledAdenosine 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.ConclusionIdentification of CECR1 mutations in patients with vasculopathy may lead to earlier diagnosis of ADA2 deficiency.

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