Projects
Clinical, genetic and immunological study of human adenosine deaminase type 2 deficiency KU Leuven
Human adenosine deaminase type 2 (ADA2) deficiency is a recently described inborn error of immunity with a broad presentation including fever with cutaneous vasculitis but also intracranial hemorrhages, immunodeficiency and bone marrow anomalies. It carries important morbidity and substantial mortality (10%). Bi-allelic mutations in the gene ADA2 are responsible for this rare condition. The gene product, adenosine deaminase 2, plays a role in ...
Study of the mechanisms of necrotic debris phagocytosis by neutrophils KU Leuven
Acute liver injury occurs in most cases as a consequence of paracetamol intake. This drug promotes hepatic necrosis when used in excess, thereby eliciting liver failure. The only available therapy is treatment with N-acetylcysteine, but it is only effective if administered within 8 hours of intoxication. Consequently, this short therapeutic window is often missed, resulting in the need for liver transplantation and mortality. This project ...
In-depth investigation of autoinflammatory disorders KU Leuven
Monogenic inherited disorders can cause a variety of disease phenotypes and as a whole pose a serious burden on the healthy system due to the high number of patients affected. In order to administer efficient treatment and provide informed counselling support, the genetic basis of the disorder needs to be identified. While the number of genes causing hereditary disorders is constantly rising, many patients still remain without a genetic ...