Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessiveautoinflammatory disorder caused by mutations in CECR1 (cat eye syndromechromosome region, canditate 1) gene, which encodes the enzyme adenosinedeaminase 2 necessary for endothelial cell survival and function.The diversity of the clinical phenotypes associated with DADA2 includepolyarteritis nodosa-like vasculitic features, early-onset stroke, mild to severeimmunodeficiency and cytopenias.The diagnosis of the disease may be difficult due to complex clinical phenotype.Herein, we present a case of DADA2 presenting with vasculitis, amarousisfugax, gastrointestinal bleeding and silent lacunar infarct successfully treatedwith etanercept.
📌 3 Key Takeaways
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Objective & Hypothesis:Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessiveautoinflammatory disorder caused by mutations in CECR1 (cat eye syndromechromosome region, canditate 1) gene, which encodes the enzyme adenosinedeaminase 2 necessary for endothelial cell survival and function.The diversity of the clinical phenotypes associated with DADA2 includepolyarteritis nodosa-like vasculitic features, early-onset stroke, mild to severeimmunodeficiency and cytopenias.The diagnosis of the disease may be difficult due to complex clinical phenotype.Herein, we present a case of DADA2 presenting with vasculitis, amarousisfugax, gastrointestinal bleeding and silent lacunar infarct successfully treatedwith etanercept.
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Key Findings & Data:Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessiveautoinflammatory disorder caused by mutations in CECR1 (cat eye syndromechromosome region, canditate 1) gene, which encodes the enzyme adenosinedeaminase 2 necessary for endothelial cell survival and function.The diversity of the clinical phenotypes associated with DADA2 includepolyarteritis nodosa-like vasculitic features, early-onset stroke, mild to severeimmunodeficiency and cytopenias.The diagnosis of the disease may be difficult due to complex clinical phenotype.Herein, we present a case of DADA2 presenting with vasculitis, amarousisfugax, gastrointestinal bleeding and silent lacunar infarct successfully treatedwith etanercept.
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Conclusion & Impact:Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessiveautoinflammatory disorder caused by mutations in CECR1 (cat eye syndromechromosome region, canditate 1) gene, which encodes the enzyme adenosinedeaminase 2 necessary for endothelial cell survival and function.The diversity of the clinical phenotypes associated with DADA2 includepolyarteritis nodosa-like vasculitic features, early-onset stroke, mild to severeimmunodeficiency and cytopenias.The diagnosis of the disease may be difficult due to complex clinical phenotype.Herein, we present a case of DADA2 presenting with vasculitis, amarousisfugax, gastrointestinal bleeding and silent lacunar infarct successfully treatedwith etanercept.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Özet
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessiveautoinflammatory disorder caused by mutations in CECR1 (cat eye syndromechromosome region, canditate 1) gene, which encodes the enzyme adenosinedeaminase 2 necessary for endothelial cell survival and function.The diversity of the clinical phenotypes associated with DADA2 includepolyarteritis nodosa-like vasculitic features, early-onset stroke, mild to severeimmunodeficiency and cytopenias.The diagnosis of the disease may be difficult due to complex clinical phenotype.Herein, we present a case of DADA2 presenting with vasculitis, amarousisfugax, gastrointestinal bleeding and silent lacunar infarct successfully treatedwith etanercept.
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Cite This Article
ÇAKAN, M., AYAZ, N. A., KARADAĞ, Ş. G., TURANLI, E. T., STAFSTROM, K., BAİNTER, W., GEHA, R. S., CHOU, J. (2019). Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 3, 413–417. https://ajindex.com/articles/412107