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.
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.
We are interested in studying disease mechanisms.
Our goal is to broaden the knowledge of human immunology and improve treatment for patients with immune diseases.
Mauracher AA, Eekels JJM, Woytschak J, van Drogen A, Bosch A, Prader S, Felber M, Heeg M, Opitz L, Trück J, Schroeder S, Adank E, Klocperk A, Haralambieva E, Zimmermann D, Tantou S, Kotsonis K, Stergiou A, Kanariou MG, Ehl S, Boyman O, Sediva A, Renella R, Schmugge M, Vavassori S, Pachlopnik Schmid J.
LYMPHADENOPATHY DRIVEN BY TCR-Vγ8Vδ1 T-CELL EXPANSION IN FAS-RELATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
Vavassori S, Galson J, Trück J, van Den Berg A, Tamminga RYJ, Magerus-Chatinet A, Pellé O, Camenisch Gross U, Marques Maggio E, Prader S, Nüesch U, Mauracher A, Volkmer B, Speer O, Suda L, Röthlisberger B, Zimmermann DR, Müller R, Diepstra A, Visser L, Haralambieva E, Neven B, Rieux-Laucat F, Pachlopnik Schmid J. Blood Adv.