Grant: Operating Grant

One of the most important functions of our immune system is to protect against infection. Although everyone experiences infections of one form or another, some people have infections that seem to fall beyond the scope of normal immune defence. Such cases may be explained by inherited defects of the immune system, known as primary immune deficiency diseases (PIDs). PIDs are caused by inherited defects in the genes that control the immune system. Primary immune deficiency diseases are not related to AIDS (acquired immunodeficiency syndrome) which is due to infection with human immunodeficiency virus (HIV). I am a Pediatric Immunologist and my job is to care for the children in British Columbia who are born with PIDs. Very recently, my lab found that mutations in a gene called MALT1 cause a new form of PID and we have identified the only known living person in the world with MALT1 mutations. In the proposed research we will carefully work to understand how the mutations in MALT1 disable normal protective immune function. This research is both important and timely. Defining the genetic cause of human PIDs can be lifesaving for affected patients and also provides the unique opportunity to understand the function of MALT1 in the human immune system.