Abstract:Background: The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss-of-function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory and hematologic, however, most patients presented with significant overlap between these three phenotype groups. Due to its large heterogeneity, DADA2 is often mistak… Show more
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