Pachlopnik Lab.
Understanding
Primary Immunodeficiencies
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.
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.
OUR RESEARCH.
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.
OUR TEAM.
LATEST PUBLICATIONS.
April 2020
ERYTHROPOIESIS DEFECT OBSERVED IN STAT3 GOF PATIENTS WITH SEVERE ANEMIA
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.
J Allergy Clin Immunol.
January 2019
EPITHELIAL PROLIFERATION IN INFLAMMATORY SKIN DISEASE IS REGULATED BY TTC7 IN FIBROBLASTS AND LYMPHOCYTES
December 2018
January 2018
CLASSIFICATION, CLINICAL MANIFESTATION AND DIAGNOSIS OF HLH
Pachlopnik Schmid J, Volkmer B, Ehl S. Histiocytic Disorders