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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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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.

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