ERC Starting Grant · 2020
Multi-omics research applied to Human ADA2 deficiency and beyond
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. Hematopoietic stem cell transplantation is curative in most cases. Although the condition was described in 2014, its pathophysiology is unsolved. From previous work in my laboratory, I have gained insight that…
From the public funding record at EU CORDIS. Describes the funded project, not the reviews below.