Ruben Martinez Barricarte, Ph.D.
Human immunology, human genetics, infectious diseases, molecular biology, primary immunodeficiencies (PID), immunogenetics
Since very soon after Louis Pasteur discovered that infectious diseases were caused by “germs” (1866), the question of why most children remain asymptomatic whereas others develop clinical, sometimes fatal, disease after infection with the same pathogen has remained a major enigma in the field of infectious diseases. During recent years, this question has been tackled from a human genetic perspective by hypothesizing that individuals who develop severe disease have an undiagnosed primary immunodeficiency (PID) caused by a single-gene inborn error of immunity. In other words, these individuals have a “hole" in their immune system caused by a mutation in just one immune-related gene. This mutation predisposes them to life-threatening infections with a given pathogen while remaining resistant to other infectious challenges. Using a multidisciplinary approach, our lab tries to genetically and immunologically dissect severe infectious diseases in otherwise healthy individuals.