The public defence will be held as a video conference over Zoom.
The defence will follow regular procedure as far as possible, hence it will be open to the public and the audience can ask ex auditorio questions when invited to do so.
Click here to participate in the public defence
Due to copyright reasons, an electronic copy of the thesis must be ordered from the faculty. In order for the faculty to have time to process the order, it must be received by the faculty no later than 2 days prior to the public defence. Orders received later than 2 days before the defence will not be processed. Inquiries regarding the thesis after the public defence must be addressed to the candidate.
Digital Trial Lecture – time and place
Adjudication committee
- First opponent: Professor Andrew Gennery, Pediatric Immunology Department, Great North Children's Hospital, Newcastle, UK
- Second opponent: Professor Einar Kristoffersen, Haukeland University Hospital
- Third member and chair of the evaluation committee: Associate Professor Torild Skrivarhaug, University of Oslo
Chair of the Defence
Professor Emeritus Frode Vartdal, Faculty of Medicine, University of Oslo
Principal Supervisor
Professor Emeritus Tore G. Abrahamsen, Faculty of Medicine, University of Oslo
Summary
My thesis is entitled: T-cell receptor excision circles as a measure of T-cell lymphopenia. During the last years, T-cell receptor excision circles (TRECs) tests have been used in newborn screening for severe combined immune deficiency (SCID) in some countries. The main aim of this study was to use TRECs as a measure of T-cell lymphopenia in different groups of patients. TRECs were measured in DNA isolated from dried blood spots on newborn screening filtercards or from whole blood. In this thesis we present the pilot project Newborn screening (NBS) for SCID and the results after 1.5 years of national SCID screening in Norway. In this study TREC test was used as 1 st tier and Next Generation Sequencing (NGS) as 2nd tier. We further presented newborn TREC in patients with 22q11.2 deletion syndrome (del) and it’s prognostic value. We also investigated TREC in patients with different types of heart defects with or without 22q11.2 del. Finally, we used TREC as a marker for disease severity in patients with Respiratory Syncytial Virus infection. In this study both the newborn and TREC during disease was measured. Our study demonstrated that NGS integrated in NBS algorithm rapidly uncovered the molecular diagnoses and provided information useful for management and targeted therapy. In the 22q11.2 del a high prognostic value were found in patients with no TREC as they had to avoid live vaccines and needed specific care to prevent infections. In patients with heart defects we found that patients with 22q11.2 del and conotruncal heart defects had the lowest TREC values. The low TRECs were associated with 22q11.2 deletion and thymus aplasia/hypoplasia. In patients with later RSV infection we did not found low TREC on NBS filtercards, indicating that these children do not have any congenital T-cell defect. In patients hospitalized with RSV infection lower TREC were found in those with severe disease compared to those with mild and moderate. Our study suggested that TREC could be a useful biomarker for disease severity in RSV disease. The conclusion of our study is that quantification of TREC can be used as a measure of thymic function. We have investigated Newborn T-cell receptor excision circles as a measure of thymic function.
Additional information
Contact the research support staff.