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., ...More

The Journal of rheumatology, vol.47, no.1, pp.117-125, 2020 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.3899/jrheum.181384
  • Journal Name: The Journal of rheumatology
  • Journal Indexes: Science Citation Index Expanded, Scopus, PASCAL, BIOSIS, CAB Abstracts, CINAHL, EMBASE, International Pharmaceutical Abstracts, MEDLINE
  • Page Numbers: pp.117-125
  • Keywords: ADENOSINE DEAMINASE 2 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA, POLYARTERITIS NODOSA PURE RED CELL ANEMIA, CELL TRANSPLANTATION RESCUES, POLYARTERITIS-NODOSA, CLASSIFICATION, VASCULOPATHY, CRITERIA, RECEPTOR, ADA2

Abstract

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.