Tag: adenosine-deaminase-2

Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disorder characterized by various forms of vasculitis and is rarely manifesting as pure red cell aplasia (PRCA) or neutropenia. Very few reports in the literature document these associations. We, therefore, report two different novel mutations in the ADA2 (also known as cat eye syndrome chromosome region…