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., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.61, no.3, pp.413-417, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 61 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.24953/turkjped.2019.03.014
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.413-417
  • Keywords: amaurosis fugax, deficiency of adenosine deaminase 2, stroke, vasculitis, VASCULOPATHY, MUTATIONS, GENOTYPE, TYPE-2, CHILD
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

Abstract

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.