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.

Main Collaborators
  • Mikko Seppänen, Rare disease center and Pediatric Research Center, HUS Helsinki University hospital and TRIMM, University of Helsinki
  • Juha Kere, Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden and Folkhälsan Research Center, Helsinki
  • Janna Saarela, Centre for Molecular Medicine Norway, University of Oslo, Norway and Institute for Molecular Medicine Finland, University of Helsinki
  • Markku Varjosalo, Institute of Biotechnology, University of Helsinki
  • Behdad Afzali, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, USA
  • Päivi Saavalainen, TRIMM, University of Helsinki