Search

Now showing items 1-1 of 1

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

Özen, Seza; Batu, Ezgi Deniz; Taşkıran, Ekim Z; Özkara, Hatice Asuman; Ünal, Şule; Güleray, Naz; Erden, Abdulsamet; Karadağ, Ömer; Gümrük, Fatma; Çetin, Mualla; Sönmez, Hafize Emine; Bilginer, Yelda; Ayvaz, Deniz Çağdaş; Tezcan, Ilhan (J Rheumatol Publ Co, 2019-05-01)

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 ...