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

Nisha Garg; Ozgur Kasapcopur; Joseph Foster; Kenan Barut; Ayşe Tekin; Osman Kızılkılıç; Mustafa Tekin

doi:10.1007/s00431-014-2320-8

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

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

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article › peer-review

42 Scopus citations

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	https://doi.org/10.1007/s00431-014-2320-8
State	Published - Jun 2014

Keywords

Adenosine deaminase 2
CECR1 gene
Polyarteritis nodosa
Vasculitis

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Access to Document

10.1007/s00431-014-2320-8

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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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AU - Kasapcopur, Ozgur

AU - Foster, Joseph

AU - Barut, Kenan

AU - Tekin, Ayşe

AU - Kızılkılıç, Osman

AU - Tekin, Mustafa

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KW - Adenosine deaminase 2

KW - CECR1 gene

KW - Polyarteritis nodosa

KW - Vasculitis

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