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

1 May 2019

Abstract excerpt

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. Methods. This is a descriptive study of 24 patients with DADA2 who were admitted to the Adult and Pediatric Rheumatology, Pediatric Haematology, and...

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Share to Adenosine and Purinergic Signaling
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PMID: 31043544
DOI: 10.3899/jrheum.181384

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