Monogenic primary immunodeficiency diseases (PIDs) are rare diseases caused by mutations in genes that control the immune response.

Our research focuses on characterization of novel causative gene mutations and investigates in detail the function of respective genes in the immune response, and how these gene mutations result in disease. Identification of new diseases and their molecular mechanisms will enable early diagnosis and screening, prophylactic interventions, genetic counselling, and reveal potential treatment targets to inform the design of novel therapeutics and curative gene therapies for PIDs. In addition, the investigation of single gene mutations linked to disease will lead to new discoveries on the molecular regulation of the human immune response and enhance our understanding of more common immunological diseases.