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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.

From Clinic to Bench to Bedside

With the Genetic Study of Immunodeficiency, our lab has collected a large cohort of patients, and used next-generation genomics and transcriptomics to find novel mutations.


We use functional and phenotypical immunological assays and high-throughput microscopy to assess the interactions and dynamics of a healthy and altered immune response.


By studying diseases in (patient-derived) cell and animal models, we gain further understanding of the interconnected pathways affected by a disease.

Disease Models.

In an effort of understanding the mechanism of a immunodeficiency, we hope to find novel targets for drug treatments with both approved and new drugs.

Drug Targets.

Our Research.

Our Team.

We are a dynamic team of people with diverse backgrounds and skill sets, and a shared passion for science. As we tackle scientific questions and aim to push boundaries, we create a fun and collaborative environment. Click below to meet the brilliant minds behind our lab.

Selected Publications.

Find out more about the essence of our lab by reading the two selected publications on CD48 and ZNFX1. Want to know more about our published research? Click the link below to find out more.

Recurrent inflammatory disease caused by a heterozygous mutation in CD48

Benjamin Volkmer et al. (J Allergy Clin Immunol, 2019)

On the role of CD48 in the regulation of inflammation, ensuring correct NK cell maturation and function, and regulating target cell susceptibility to cytotoxicity.

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Stefano Vavassori et al. (J Allergy Clin Immunol, 2021)

On the role of ZNFX1 in viral infections and a multisystem inflammatory disease caused by ZNFX1 deficiency.

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