A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.


Ozen S. , Bilginer Y., Batu E., Taşkıran E., Özkara H., Ünal Ş. , ...Daha Fazla

The Journal of rheumatology, cilt.47, sa.1, ss.117-125, 2020 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Konu: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.3899/jrheum.181384
  • Dergi Adı: The Journal of rheumatology
  • Sayfa Sayıları: ss.117-125

Özet

Objective. Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2 patients.