Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2
Yıl: 2019 Cilt: 61 Sayı: 3 Sayfa Aralığı: 413 - 417 Metin Dili: İngilizce DOI: 10.24953/turkjped.2019.03.014 İndeks Tarihi: 07-08-2020
Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2
Öz: 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.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
| APA | Çakan M, AYAZ N, KARADAĞ Ş, TURANLI E, STAFSTROM K, BAİNTER W, GEHA R, CHOU J (2019). Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. , 413 - 417. 10.24953/turkjped.2019.03.014 |
| Chicago | Çakan Mustafa,AYAZ Nuray Aktay,KARADAĞ Şerife Gül,TURANLI Eda Tahir,STAFSTROM Kelsey,BAİNTER Wayne,GEHA Raif S.,CHOU Janet Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. (2019): 413 - 417. 10.24953/turkjped.2019.03.014 |
| MLA | Çakan Mustafa,AYAZ Nuray Aktay,KARADAĞ Şerife Gül,TURANLI Eda Tahir,STAFSTROM Kelsey,BAİNTER Wayne,GEHA Raif S.,CHOU Janet Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. , 2019, ss.413 - 417. 10.24953/turkjped.2019.03.014 |
| AMA | Çakan M,AYAZ N,KARADAĞ Ş,TURANLI E,STAFSTROM K,BAİNTER W,GEHA R,CHOU J Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. . 2019; 413 - 417. 10.24953/turkjped.2019.03.014 |
| Vancouver | Çakan M,AYAZ N,KARADAĞ Ş,TURANLI E,STAFSTROM K,BAİNTER W,GEHA R,CHOU J Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. . 2019; 413 - 417. 10.24953/turkjped.2019.03.014 |
| IEEE | Çakan M,AYAZ N,KARADAĞ Ş,TURANLI E,STAFSTROM K,BAİNTER W,GEHA R,CHOU J "Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2." , ss.413 - 417, 2019. 10.24953/turkjped.2019.03.014 |
| ISNAD | Çakan, Mustafa vd. "Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2". (2019), 413-417. https://doi.org/10.24953/turkjped.2019.03.014 |
| APA | Çakan M, AYAZ N, KARADAĞ Ş, TURANLI E, STAFSTROM K, BAİNTER W, GEHA R, 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, 61(3), 413 - 417. 10.24953/turkjped.2019.03.014 |
| Chicago | Çakan Mustafa,AYAZ Nuray Aktay,KARADAĞ Şerife Gül,TURANLI Eda Tahir,STAFSTROM Kelsey,BAİNTER Wayne,GEHA Raif S.,CHOU Janet Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. Turkish Journal of Pediatrics 61, no.3 (2019): 413 - 417. 10.24953/turkjped.2019.03.014 |
| MLA | Çakan Mustafa,AYAZ Nuray Aktay,KARADAĞ Şerife Gül,TURANLI Eda Tahir,STAFSTROM Kelsey,BAİNTER Wayne,GEHA Raif S.,CHOU Janet Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. Turkish Journal of Pediatrics, vol.61, no.3, 2019, ss.413 - 417. 10.24953/turkjped.2019.03.014 |
| AMA | Çakan M,AYAZ N,KARADAĞ Ş,TURANLI E,STAFSTROM K,BAİNTER W,GEHA R,CHOU J Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. Turkish Journal of Pediatrics. 2019; 61(3): 413 - 417. 10.24953/turkjped.2019.03.014 |
| Vancouver | Çakan M,AYAZ N,KARADAĞ Ş,TURANLI E,STAFSTROM K,BAİNTER W,GEHA R,CHOU J Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. Turkish Journal of Pediatrics. 2019; 61(3): 413 - 417. 10.24953/turkjped.2019.03.014 |
| IEEE | Çakan M,AYAZ N,KARADAĞ Ş,TURANLI E,STAFSTROM K,BAİNTER W,GEHA R,CHOU J "Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2." Turkish Journal of Pediatrics, 61, ss.413 - 417, 2019. 10.24953/turkjped.2019.03.014 |
| ISNAD | Çakan, Mustafa vd. "Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2". Turkish Journal of Pediatrics 61/3 (2019), 413-417. https://doi.org/10.24953/turkjped.2019.03.014 |
