The troubled immune system – molecular origins of immune dysregulation

The human immune system draws on a wide range of powerful weapons to protect us against infection. Those weapons also pose a threat if mistakenly targeted at our own tissues. The healthy immune system is actively held in check but when this regulation breaks down, we see diseases such as rheumatoid arthritis, inflammatory bowel disease and insulin-dependent diabetes.

My research will focus on children who develop severe problems with self-directed immune responses early in life to learn more about the mechanisms underlying immune regulation. Experience suggests that most of these children have an inherited problem with their immune system. In our research, we will sequence patients’ DNA to find the genetic spelling mistakes that cause these problems. We will try to work out how the affected genes take part in proper regulation of the immune system. We will look in great detail at immune cells from patients and healthy people and we will study the immune system of mice with similar genetic spelling mistakes to give us more insight.

Our research will improve patient outcomes by describing new diseases of the immune system and their mechanisms.