Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency

Abstract excerpt

Recently, recessively inherited loss-of-function mutations in CECR1 (cat eye syndrome chromosome region, candidate 1), which encodes adenosine deaminase 2 (ADA2), were identified in patients with a complex immunologic and vascular phenotype.1,2 Possible mechanisms for this disorder are proinflammatory polarization and disturbed endothelial integrity.1,2 Zhou et al1 reported that aggressive systemic...

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