Pachlopnik Lab.

ABOUT.

Our lab focuses on inborn errors of the immune system and their consequences on health - often an increased susceptibility to infections or an immune dysregulation. Many severe forms of immune defects affect babies and children when coming into first contact with pathogens. Treatment of patients is very dependent on the type of immune defect. We focus on patients, in whom routine diagnosis does not find the cause of the disease or  disease cause is not well understood.

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Using whole exome sequencing we aim at finding the disease-causing mutation. As a next step, we characterize the consequences of the mutation with different methods, such as targeted mutations in cell lines, immunological assays, cytometry and multiplexed imaging. Our goal is to identify the molecular mechanisms that underlie these diseases, an essential  prerequisite for the identification of targeted treatment strategies.