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


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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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 61 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.24953/turkjped.2019.03.014
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.413-417

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.