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

JOURNAL OF RHEUMATOLOGY, cilt.47, ss.117-125, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 47 Konu: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.3899/jrheum.181384
  • Dergi Adı: 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.