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

被引：59

作者：

Garg, Nisha ^{[1
,2
]}

Kasapcopur, Ozgur ^{[3
]}

Foster, Joseph, II ^{[1
,2
]}

Barut, Kenan ^{[3
]}

Tekin, Ayse ^{[3
]}

Kizilkilic, Osman ^{[4
]}

Tekin, Mustafa ^{[1
,2
]}

机构：

[1] Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA

[2] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA

[3] Istanbul Univ, Cerrahpasa Med Sch, Div Pediat Rheumatol, TR-34098 Istanbul, Turkey

[4] Istanbul Univ, Cerrahpasa Med Sch, Dept Radiol, TR-34098 Istanbul, Turkey

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2014年 / 173卷 / 06期

关键词：

Adenosine deaminase 2; CECR1; gene; Polyarteritis nodosa; Vasculitis; POLYARTERITIS-NODOSA; ADA2;

D O I：

10.1007/s00431-014-2320-8

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：827 / 830

页数：4

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