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Published in: European Journal of Pediatrics 6/2014

01-06-2014 | Case Report

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

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

Published in: European Journal of Pediatrics | Issue 6/2014

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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.
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Metadata
Title
Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy
Authors
Nisha Garg
Ozgur Kasapcopur
Joseph Foster II
Kenan Barut
Ayşe Tekin
Osman Kızılkılıç
Mustafa Tekin
Publication date
01-06-2014
Publisher
Springer Berlin Heidelberg
Published in
European Journal of Pediatrics / Issue 6/2014
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-014-2320-8

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