Primary Immunodeficiency (PID) is a rare life threatening disease where patients suffer from severe and/or repeated and/or unusual infections, as a result of a deficiency in their immune system. There are 9 major categories of the disease characterized by both clinical symptoms and whether the defective immunological pathway occurs in the cellular, humoral or complement systems (Picard, 2015). The defects are caused by gene mutations in the patient’s DNA, which ultimately result in defective transcription and translation of proteins whose role it is to fight microbes and viruses.
Diagnosis of PID is difficult because it is a rare disease with clinical symptoms of infection, which is commonly found in the normal population. The severity and frequency of infection is a clue to investigating PID as well as using currently available laboratory tests that evaluate specific functions of the immune system. A substantial issue for these patients is the long time it takes for an accurate diagnosis, reported to be 9 years for the most common form of the disease based on a recent study of major Melbourne hospitals. Once a diagnosis is made, there are effective treatments that significantly improve quality of life and savings to the healthcare system.
This clinical study being conducted by Immunosis aims to determine whether analysis of genomic information, particularly expressed gene sequence, can assist in the diagnosis of patients with PID.
