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A monogenic disease with a variety of phenotypes: deficiency of adenosine deaminase 2 Subtitle: Deficiency of adenosine deaminase 2.

J. Rheumatol.. 2019;

OzenSeza，BilginerYelda，BatuEzgi Deniz，TaşkıranEkim，ÖzkaraHatice Asuman，ÜnalŞule，GülerayNaz，ErdenAbdulsamet，KaradağÖmer，GümrükFatma，ÇetinMualla，SönmezHafize Emine，AyvazDeniz Çağdaş，TezcanI

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Biochemicals	1X PCR buffer (GenScript	Get A Quote

摘要

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 DADA2 patients compared to non-DADA2 patients.