Identification of the genetic and immunological basis of severe infectious diseases
In recent years, it has emerged that mutations in genes encoding proteins of innate or cell-intrinsic immunity may underlie rare primary immunodeficiencies in humans. Within the framework of my research program, we are aiming at the identification and functional immunological characterization of novel genetic defects predisposing to severe viral infections, including herpes encephalitis (brain infection), meningitis, poliomyelitis, and severe influenza. This requires studies on basic genetics, cell biology, and immunology on the one hand, and the identification of patients with a rare but severe infectious phenotype, who may directly benefit from our findings in terms of choosing optimal prophylactic and treatment strategies on the other hand. The scope is therefore truly translational medical research focusing on very rare diseases, from which we can learn basic infection immunology and at the same time use this knowledge to inform decision making on diagnosis, prophylaxis, and treatment of these severe infectious diseases.
