BBB seminar: Janna Saarela

Janna Saarela
Centre for Molecular Medicine Norway, University of Oslo

Primary immunodeficiency diseases (PIDDs) comprise a heterogeneous group of congenital disorders resulting whenever one or more essential branches of the immune system are impaired because of a genetic defect. The spectrum of clinical presentations of PIDD includes autoimmunity, autoinflammation, and neoplasia, in addition to serious, recurrent, or unusual infections. The onset is generally in early childhood or adolescence and the diagnosis is based on characteristic clinical symptoms. The similarities between different disorders and the frequently overlapping symptoms often delay the diagnosis and make treatment of PIDDs very challenging.

To improve the diagnostics of the diseases, we have set up a whole exome sequencing based virtual panel to screen mutations in the previously described PIDD genes. NGS based analysis of 400 PIDD patients provided a molecular diagnosis for approximately 25% of them. In addition to providing a specific diagnosis to some of the patients, exome-based analysis of the patient samples has enabled us to identify novel disease-causing genes, such as NFKB1 and DIAPH1, and characterize the functional consequences of the gene defects. Characterization of the novel disease genes provides new treatment targets and offers further insights into normal human immune system.

Chairperson: Aurora Martinez, Department of Biomedicine