Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2

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.