This clinically-oriented research focuses on the application, optimization, and validation of clinical immunology diagnostic tools, covering two rare disease entities: autoimmune diseases and primary immune diseases (PID).

The initial focus of this research was on standardization and harmonization projects, including the development of guidelines (e.g., antibody testing in systemic autoimmune rheumatic diseases) and the optimization of diagnostic tests ranging from commercial platforms (e.g., reporting strategies of autoantibody data in myositis and systemic sclerosis) to in-house developed assays (e.g., biological therapeutic drug monitoring) and standardized next-generation flow cytometry (e.g., EuroFlow-based PID screening and classification). Clinical validations to document the clinical performance characteristics of the developed/optimized tests are also conducted for both disease entities.

More recently, the research has evolved to address more fundamental research questions to better understand one of the most prevalent and enigmatic PIDs, common variable immunodeficiency diseases (CVID). In this context, the ongoing projects of the research group explore the role of epigenetics alongside multiparameter flow cytometry to better understand its heterogeneity and the immunological abnormalities observed. The ultimate goal is to develop diagnostic and prognostic applications to improve the diagnostic workup of these patients.