Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2
Geha, Raif S.
Karadag, Serife Gul
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Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by mutations in CECR1 (cat eye syndrome chromosome region, canditate 1) gene, which encodes the enzyme adenosine deaminase 2 necessary for endothelial cell survival and function.
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