Primary Immunodeficiency (PID) refers to a group of health problems in which a person’s immune system doesn't work properly. The immune system normally protects us from germs, but it does not work well in people with PID. Most PIDs are caused by genetic variation. These variations can take several different forms. Examples include a single change in the genetic sequence, or a change in the number of times a gene is read, which affects the quantity of protein that is made. We use a laboratory technology called Whole genome sequencing (WGS) to find these changes. WGS has helped finding many causes of PID, but not all of them. In this project, we want to find out which genes in the blood cells of people with immune problems are turned on and which are turned off. We can study this using a technique called RNA sequencing. This technique can give us important clues to help answer two big questions we still don’t know. This can help doctors improve diagnosis of the disease, help us understand the disease better, and guide the development of better treatments in the future. Why do some people with the same gene change get sick, while others don’t? Why do changes in certain genes cause very different symptoms in different people?
