The Turkish Journal of Pediatrics 2019 , Vol 61 , Num 3
Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2
Mustafa Çakan 1 ,Nuray Aktay-Ayaz 1 ,Şerife Gül Karadağ 1 ,Eda Tahir-Turanlı 2 ,Kelsey Stafstrom 3 ,Wayne Bainter 3 ,Raif S. Geha 3 ,Janet Chou 3
1 Clinic of Pediatric Rheumatology, Kanuni Sultan Süleyman Research and Training Hospital, Istanbul, Turkey
2 Department of Molecular Biology and Genetics, Istanbul Technical University, Istanbul, Turkey
3 Division of Immunology, Boston Children’s Hospital and Department of Pediatrics, Harvard Medical School, Boston, USA
DOI : 10.24953/turkjped.2019.03.014 Çakan M, Aktay-Ayaz N, Karadağ ŞG, Tahir-Turanlı E, Stafstrom K, Bainter W, Geha RS, Chou J. Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2. Turk J Pediatr 2019; 61: 413-417.

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by mutations in CECR1 (cat eye syndrome chromosome region, canditate 1) gene, which encodes the enzyme adenosine deaminase 2 necessary for endothelial cell survival and function.

The diversity of the clinical phenotypes associated with DADA2 include polyarteritis nodosa-like vasculitic features, early-onset stroke, mild to severe immunodeficiency 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, amarousis fugax, gastrointestinal bleeding and silent lacunar infarct successfully treated with etanercept. Keywords : amaurosis fugax, deficiency of adenosine deaminase 2, stroke, vasculitis

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