CORDIS Project
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This project investigates potential drug modulators to restore ADA2 expression in patients with a rare immune deficiency. The goal is to identify treatments that can improve the condition of affected individuals, particularly those with severe symptoms.
Human ADA2 deficiency is a rare inborn error of immunity caused by pathogenic variants in ADA2.
The disease has a wide array of presentations ranging from vasculitis of the skin to the central nervous system (with strokes), fevers and immunodeficiency to cytopenia and bone marrow failure.
Mortality is 10%, and occurs mostly in childhood. TNF inhibitor treatment is efficient for treating the vasculitis, but the bone marrow failure is refractory to treatment and requires hematopoietic stem cell tr…
KATHOLIEKE UNIVERSITEIT LEUVEN
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