Project A8 - Genetic and functional characterization of viral infections in humans
Primary immunological defects are generally considered as rare hereditary defects of the immune system manifesting by a predisposition for severe recurring infections. The overall goal of this project is to identify the molecular etiology of primary immunodeficiency diseases predisposing to chronic viral infections. We recently identified an unusual clinical phenotype associating immunological and cardiac abnormalities and thereby revealed a mutation in the gene STK4. Using this novel genetic defect as a paradigm we want to perform a series of immunological and cell biological studies in patient cells and in a mouse model in order to address the underlying mechanisms of increased susceptibility towards viral infections.