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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Abbreviations
- ADA2:
-
Adenosine deaminase 2
- ALT/AST:
-
Alanine aminotransferase/aspartate aminotransferase
- ANA:
-
Antinuclear antibodies
- Arg:
-
Arginine
- c-ANCA:
-
Cytoplasmic anti-neutrophil cytoplasmic antibody
- CAPS:
-
Cryopyrin-associated periodic syndrome
- CECR1 :
-
Cat eye syndrome chromosome region, candidate 1
- CRP:
-
C-reactive protein
- DNA:
-
Deoxyribonucleic acid
- dsDNA:
-
Double-stranded deoxyribonucleic acid
- ESR:
-
Erythrocyte sedimentation rate
- FMF:
-
Familial Mediterranean fever
- Gly:
-
Glycine
- Hb:
-
Hemoglobin
- IgG:
-
Immunoglobulin G
- IgM:
-
Immunoglobulin M
- MCV:
-
Mean corpuscular volume
- MRI:
-
Magnetic resonance imaging
- PAN:
-
Polyarteritis nodosa
- p-ANCA:
-
Perinuclear anti-neutrophil cytoplasmic antibody
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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.
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Communicated by Beat Steinmann
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Garg, N., Kasapcopur, O., Foster, J. et al. Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. Eur J Pediatr 173, 827–830 (2014). https://doi.org/10.1007/s00431-014-2320-8
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DOI: https://doi.org/10.1007/s00431-014-2320-8