CORDIS Project
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The project investigates adenosine type 2 deficiency, a rare genetic condition linked to severe health issues. It aims to understand its underlying mechanisms, explore its prevalence, and develop new treatment strategies for affected individuals and related conditions.
Human adenosine type 2 (ADA2) deficiency is a rare but devastating condition resulting in a complex phenotype of vasculitis (ranging from cutaneous to intracerebral vasculitis with lacunar infarcts), immunodeficiency (recurrent bacterial or viral infections), bone marrow anomalies (cytopenia, aplasia), cancer (lymphoma, leukemia).
Mortality is 10%, often in childhood.
The mainstay of treatment consists of anti-TNF blockade for vasculitis.
Cytopenia and immunodeficiency respond poorly.
Hematopoi…
KATHOLIEKE UNIVERSITEIT LEUVEN
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