Translational research into human adenosine deaminase type 2 deficiency KU Leuven
Human adenosine type 2 (ADA2) deficiency is a rare but devastating condition. The phenotype is complex and comprises vasculitis (ranging from cutaneous to intracerebral vasculitis with lacunar infarcts), immunodeficiency (recurrent bacterial or viral infections), bone marrow anomalies (cytopenia, aplasia) and cancer (lymphoma, leukemia). Mortality is 10%, affecting mostly children. Vasculitis responds well to anti-TNF treatment. However, ...