IRCM Researchers

Primary immune deficiencies (PIDs) are a group of rare and chronic disorders that are caused by inherited or genetic defects. The prevalence of PIDs worldwide is estimated at 1 in 2000 live births and encompasses a growing list of over 350 PIDs. Affected individuals may show signs of a PID anytime from birth to adulthood. PIDs are characterized by defects in the immune system that lead to increased susceptibility to infections and/or dysregulated inflammatory responses which can affect several organs. Inflammation of the gastrointestinal (GI) tract is one of the most common complications in patients with PIDs, yet little is known about its pathogenesis. 

Interestingly, the surface area of the gut averages about 30 square meters (the size of half a badminton court) and a large proportion of this area is in constant contact with a community of microbes that inhabits our gut known as the intestinal microbiota. The composition of the microbiota gets established during the first 1000 days of life. This coincides with an ongoing dialogue between the microbiota and various components of the immune system, which helps shape or “educate” our present and future immune responses. Thus, the intestinal microbiota may play a significant role in modulating inflammatory responses, especially in the context of PIDs, where a specific component of the immune system may be defective from birth.

The research unit focuses on the study of the role of the microbiota in driving local and systemic immune responses in patients with specific PIDs. The team believe that a greater understanding of this interaction may help better define the contribution of specific arms of the immune system to the development of inflammation, especially in the GI tract, in both individuals with and without PIDs. As result, team members will be able to develop diagnostic and predictive biomarkers, as well as uncover targets for therapeutic interventions that may extend beyond the care of patients with PIDs.