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


ÖZEN S., Batu E. D. , Taskiran E. Z. , ÖZKARA H. A. , ÜNAL Ş., Guleray N., ...More

JOURNAL OF RHEUMATOLOGY, vol.47, no.1, pp.117-125, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 47 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.3899/jrheum.181384
  • Title of Journal : JOURNAL OF RHEUMATOLOGY
  • Page Numbers: pp.117-125

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.