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Disease Models.

Cell and animal models are vital for validation of the findings from our genetic or functional studies. By moving towards replicating a disease in a model system, we can further illuminate the pathomechanism of the disease and the interplay with parts of or a whole immune system. Therefore, we use commercial and patient-derived cell lines, as well as mouse models to recapitulate the disease phenotype and investigate the underlying mechanisms.


The lab currently has multiple mouse lines corresponding to rare variants of mutated immune regulators previously found through our genomic studies. We have also curated a large biobank of patient samples, with established cell lines edited to emulate diseases we are investigating. Furthermore, we are working on patient-derived pluripotent stem-cell lines to provide further powerful insights.

Research Projects.

Find out about research projects related to our work on using disease models to further characterize and investigate rare diseases from mutations found in patients both worldwide and in our cohort.


Through the GSI study and in collaboration with other research and diagnostic labs at the University Children's Hospital, we have curated a large biobank of different cell types from patients with rare diseases.


These precious samples are a foundational part of our research and allow us to stay close to the diseases we find in patients.

Patient-derived iPSCs

Due to the severity of pediatric immunodeficiencies, obtaining samples from patients is not always possible or rather limited. Therefore, we aim to study these rare diseases on cells that can be maintained indefinitely and can be directed to differentiate into several cell types of the immune system.


We work towards this goal by reprogramming cells from patients with rare diseases into induced-pluripotent stem cell lines, yielding a powerful foundational tool for our research.

Mouse Models

Supplementing the research projects you may find listed under Functional Research, we employ several different established mouse models to assess specific diseases, mechanisms, or treatments.

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