Analysis of pathogenic variants in patients suffering from severe viral infection; unraveling known and novel inborn errors of immunity KU Leuven
This pHD thesis centers around genetic variants in inborn errors of immunityy that are yet not fully understood. The main aim of this thesis is the identification abd analysis of new pathogenic variants and their underlying mechanisms. The focus lays on protein and gene expression, protein localization and stability as well as interactions with other proteins. The study of pathogenic variants will be exhibited in both suitable cell lines and ...