Pachlopnik Lab.
Understanding Primary Immunodeficiencies
Our lab focuses on inborn errors of the immune system and their impact on health. Treatment of such patients is highly dependent on the specific immunodeficiency they exhibit, and the underlying cause thereof. Therefore, elucidating the cause of hyperinflammation like in HLH is crucial to both our understanding of the immune system and medical treatment. Our research is particularly focused on patients that evade routine diagnosis or diseases which we lack comprehensive understanding for.
We analyse and characterise these diseases with thorough functional and phenotypical examinations of leukocytes and fibroblasts from patients with extreme immunological phenotypes. This is supplemented with genomic, transcriptomic, and high-throughput microscopic techniques. Analysis of these datasets and functional validation in animal models enables us to identify novel diseases, characterize pathomechanisms, and apply targeted treatments.
