Diagnosis and Treatment

How is PI diagnosed and treated?

Primary immunodeficiency is a term that covers hundreds of rare genetic immune disorders with varying degrees of severity and symptoms that differ among individuals and specific disease types. While many forms of PI are inherited disorders, researchers have identified acquired forms of primary immunodeficiency in recent years. This means symptoms may develop at any point in a patient’s life.

Some Canadians receive a PI diagnosis when a severe and life-threatening infection signals a potential problem with the immune system. Unfortunately, many others go years without a diagnosis, suffering from recurring “routine” infections and illnesses.

It is important to know that PI severely impacts all aspects of a patient’s physical, social and emotional well-being.

Because PI is rare and symptoms may present as common infections, your primary care physician may not suspect an immunodeficiency. In fact, many healthcare professionals have limited knowledge and experience with PIDs, and patients are often referred to a clinical immunologist for specialist testing and care.