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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We have established a joint genomic and transcriptomic workflow, combined with thorough functional and phenotypical examinations of leukocytes and fibroblasts from patients with extreme immunological phenotypes. Analyses of these datasets in combination with functional validation in animal models enabled us to identify novel diseases to better characterize pathomechanisms of known inborn error of immunity and to apply targeted treatments.