@article{8b290a2320ab4d1aafd562fd1be531cb,
title = "Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy",
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.",
keywords = "Adenosine deaminase 2, CECR1 gene, Polyarteritis nodosa, Vasculitis",
author = "Nisha Garg and Ozgur Kasapcopur and Joseph Foster and Kenan Barut and Ay{\c s}e Tekin and Osman Kızılkılı{\c c} and Mustafa Tekin",
note = "Funding Information: Acknowledgments This study was supported by the John T. and Winifred M. Hayward Foundation as a gift to the Hussman Institute for Human Genomics at the University of Miami. Sponsors did not involve in study design; the collection, analysis, and interpretation of data; the writing of the report; and the decision to submit the paper for publication. Nisha Garg, a second year medical student at the University of Miami, wrote the first draft of the manuscript. There is no honorarium, grant, or other form of payment given to anyone to produce the manuscript.",
year = "2014",
month = jun,
doi = "10.1007/s00431-014-2320-8",
language = "English (US)",
volume = "173",
pages = "827--830",
journal = "Acta Paediatrica Belgica",
issn = "0340-6199",
publisher = "Springer Verlag",
number = "6",
}