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Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy |
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| Authors: | Nisha Garg Ozgur Kasapcopur Joseph Foster II Kenan Barut Ayşe Tekin Osman Kızılkılıç Mustafa Tekin |
| Affiliation: | 1. 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 2. Division of Pediatric Rheumatology, Istanbul University Cerrahpasa School of Medicine, Istanbul, 34098, Turkey 3. Department of Radiology, Istanbul University Cerrahpasa School of Medicine, Istanbul, 34098, Turkey |
| 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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