Metabolic and genetic aspects of thiopurine metabolism

Side-effects from drugs often have a genetic background. The described PhD research focuses on the causes of side-effects from certain anti-inflammatory drugs, the thiopurines. These are often used to treat (auto) immune diseases. In the case of thiopurine use it is important to determine the activity of the enzymes thiopurine-S-methyltransferase (TPMT) and inosine trifosfatase (ITPase) to prevent serious side-effects, such as bone marrow suppression and pneumonia and the involved hospitalisation. The research also shows that ITPase plays a role in the progression of pulmonary Langerhans’ cell histiocytosis (PLCH), a serious lung disease.