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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adenosine Deaminase / deficiency
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Adenosine Deaminase / genetics*
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Child
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Child, Preschool
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Diagnosis, Differential
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Female
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Humans
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Intercellular Signaling Peptides and Proteins / deficiency
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Intercellular Signaling Peptides and Proteins / genetics*
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Mutation*
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Polyarteritis Nodosa / diagnosis
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Polyarteritis Nodosa / genetics*
Substances
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Intercellular Signaling Peptides and Proteins
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ADA2 protein, human
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Adenosine Deaminase