TY  - JOUR
TI  - Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2
AB  - 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.
AU  - Çakan, Mustafa
AU  - STAFSTROM, Kelsey
AU  - GEHA, Raif S.
AU  - CHOU, Janet
AU  - TURANLI, Eda Tahir
AU  - AYAZ, Nuray Aktay
AU  - BAİNTER, Wayne
AU  - KARADAĞ, Şerife Gül
DO  - 10.24953/turkjped.2019.03.014
PY  - 2019
JO  - Turkish Journal of Pediatrics
VL  - 61
IS  - 3
SN  - 0041-4301
SP  - 413
EP  - 417
DB  - TRDizin
UR  - http://search/yayin/detay/353092
ER  -