Lisa Forbes Satter, MD, Associate Professor of Pediatrics at Baylor College of Medicine, explains why it often takes years to properly primary Immunodeficiency (PI).
PI is a heterogeneous group of inherited disorders characterized by impaired immune system function. These disorders result in increased susceptibility to infections, autoimmune diseases, and malignancies. There are over 500 different types of PIs, with each one affecting a specific component of the immune system. While some PIs are relatively mild, others can be severe and even life-threatening.
The underlying cause of PIs is genetic mutations in one or several genes involved in the development and function of the immune system. Early detection and treatment are crucial to improve the quality of life and survival rates for patients with PIs. Unfortunately, most symptoms with PI mimic those of more common infections. As a result, it can take several years for a PI to be properly diagnosed.
