Published January 1, 2020 | Version v1
Journal article Open

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

  • 1. Hacettepe Univ, Dept Pediat, Fac Med, Div Rheumatol, TR-06100 Ankara, Turkey
  • 2. Hacettepe Univ, Dept Med Genet, Fac Med, Ankara, Turkey
  • 3. Hacettepe Univ, Dept Med Biochem, Fac Med, Ankara, Turkey
  • 4. Hacettepe Univ, Ctr Fanconi Anemia & Other Inherited Bone Marrow, Ankara, Turkey
  • 5. Hacettepe Univ, Dept Pediat, Div Immunol, Fac Med, Ankara, Turkey

Description

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.

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