Inborn errors of immunity is a group of rare disorders caused by genetic variants. These disorders are heterogeneous and difficult to diagnose. The aim of this thesis was to determine and imporove the current genetic diagnostic yield of these disorders. I determine the current diagnostic yield of these disorders in literature to be 29%. In our diverse cohort, the yield was only 11.8%. This increased to 15.2% through the reanalysis of existing genetic data utilizing latest tools and insights. I then studied the immune response using techniques that detect the genetic messengers of the cell, known as transcriptomics. This yields novel genes and transcripts relevant to the immune response against pathogens. This may allow future identification of disease genes in patients with inborn errors of immunity, which will lead to an increased diagnostic yield.
Emil Vorsteveld (1998) obtained his Master’s degree in Medical Biology at the Radboud University in 2021 after which he started with his PhD research as part of the Genomic Technologies and Immunogenomics group at the Department of Human Genetics of Radboudumc. Currently he is working in the same group as a Postdoc focusing on the application of transcriptomics in patients with immune-mediated diseases.