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

Cakan, Mustafa; Aktay-Ayaz, Nuray; Karadag, Serife; Tahir-Turanli, EDA; Stafstrom, Kelsey; Bainter, Wayne; Geha, Raif; Chou, Janet

doi:10.24953/turkjped.2019.03.014

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

Cakan M., Aktay-Ayaz N., Karadag S. G., Tahir-Turanli E., Stafstrom K., Bainter W., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.61, sa.3, ss.413-417, 2019 (SCI-Expanded, Scopus, TRDizin)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 61 Sayı: 3
Basım Tarihi: 2019
Doi Numarası: 10.24953/turkjped.2019.03.014
Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
Sayfa Sayıları: ss.413-417
Anahtar Kelimeler: amaurosis fugax, deficiency of adenosine deaminase 2, stroke, vasculitis, VASCULOPATHY, MUTATIONS, GENOTYPE, TYPE-2, CHILD
Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.