A healthy immune system functions to protect us from infectious diseases. However, some people are born with a Primary Immunodeficiency Disease (PID), which leaves them vulnerable to severe infection because their immune system is impaired.

PIDs are caused by inherited or acquired gene variants that interfere with the development and function of the immune system. There are currently more than 400 identified PIDs and while rare, they are increasing in number and complexity. Typically appearing during childhood, PIDs make children susceptible to developing lymphoma. A patient with a PID is 300 times more likely to develop cancer than the general population. Without effective treatment, a patient’s life expectancy is significantly reduced.

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Garvan’s immunodeficiency research is diverse, focusing on translating basic scientific discoveries into the clinic. Our scientists have developed a new understanding of how and why the immune system fails. We are now investigating how to prevent this and how to halt the progression of immune disorders in their early stages. We are also studying whether immunodeficiency can be prevented in those who may have inherited an increased risk for disease.

Whole-genome sequencing provides our research teams with an unparalleled ability to test families with a genetic risk for immunological disorders. It vastly increases our understanding of the underlying disease, which leads to better prevention and more effective personalised medicine. Since genetic variation is almost always a root cause of why immunodeficiency develops, we can now harness information in the genome to treat the genetic variation that causes the disease.

To learn more about how we help diagnose and find treatments for patients with rare immunodeficiencies, visit 

A collection of diseases affecting immune cells and their ability to function normally, resulting in an impaired immune system