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 Turanlı E. , Stafstrom K., Bainter W., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.61, ss.413-417, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 61 Konu: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.24953/turkjped.2019.03.014
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.413-417

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.