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Our lab uses genomics, transcriptomics, and proteomics to comprehensively analyse the genetic and molecular basis of immune dysregulation in pediatric patients with severe inborn errors of imunity. As part of our ongoing GSI study, we have been able to curate a large cohort of genomic data.


Through next-generation sequencing, we then identify novel gene variants in patients for whom routine diagnosis does not find the cause of the disease. Further transcriptomic and proteomic analyses allow us to investigate these mutations, illuminate patterns and pathways in response to contact with pathogens, as well as locate key proteins involved in a dysregulated response.

Research Projects.

Find out about research projects related to our work on genomics, transcriptomics, and proteomics.

Genetic Study of Immunodeficiency (GSI): Search for New Genetic Causes for Primary Immunodeficiencies

Individuals with suspected primary immunodeficiency will be studied and the results compared with healthy controls. Primary immunodeficiency may manifest as recurrent, severe or unusual infections as well as signs and symptoms of immune dysregulation such as autoimmunity or lymphoproliferation. Through a genomic workflow, we analyse DNA from patients included in the GSI study and their relatives in an attempt to find novel mutations that cause the immunodeficiency.

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