Grant: DRA : Canada Graduate Research Scholarship - Doctoral Program (CGRS D)

Inborn Errors of Immunity (IEIs) are a group of immune diseases caused by single gene mutations, small mistakes in the genetic code, that disrupt the immune system's protective functions. My doctoral research will help us understand how these diseases occur biologically, and improve the recognition and treatment of affected patients. This work will focus on two diseases: SPENCD (Spondyloenchondrodysplasia) and IRF4 deficiency. SPENCD patients have overactive immune systems, abnormal bone development, and/or nervous system abnormalities. My work will expand our understanding of how this occurs biologically by linking abnormal protein level/function to patient signs and symptoms. I will also assess a new treatment for these patients, baricitinib, to determine if it can successfully limit inflammation. IRF4 deficiency is a life-limiting immune disorder, with patients prone to severe, repeated, infections due to poor immune function. I am leading the global collaboration at eight international sites to develop a clear understanding of the recognition, treatment, and outcomes of this disease. Due to the severity of infections, nearly half of the patients have required bone marrow transplants. As two patients have died, our main goal is to improve the survivability of this disease by determining the optimal transplant plan for these patients. Overall, research to characterize rare, immune-linked pediatric diseases, provides families with answers and improves quality of life. It may also find new treatment options for common diseases, by discoveries made for rare diseases. My work will improve the lives of patients with inborn errors of immunity and contribute to our understanding of the human immune system.