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一名患有致命性血管病的儿童中发现新型腺苷脱氨酶2突变。

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

作者信息

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

机构信息

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,

出版信息

Eur J Pediatr. 2014 Jun;173(6):827-30. doi: 10.1007/s00431-014-2320-8. Epub 2014 Apr 16.

DOI:10.1007/s00431-014-2320-8
PMID:24737293
Abstract

UNLABELLED

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.

摘要

未标记

由于CECR1突变导致的腺苷脱氨酶2（ADA2）缺乏是一种最近定义的疾病，涉及全身性炎症和血管病变，常与结节性多动脉炎相关。我们报告了一名患有严重血管病变的5岁女孩，其CECR1基因携带两个新突变。

结论

在血管病变患者中鉴定CECR1突变可能有助于更早诊断ADA2缺乏。

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