Cancer and Autoimmune Diseases Are Underrecognized Manifestations of Primary Immunodeficiency

More than 400 identified genetic defects cause primary immunodeficiency (PID), with a prevalence of roughly 1 in 1000 people. Although we think of infections as being the major cause of morbidity and death in such patients, underappreciated manifestations include allergy, autoimmunity and inflammation, lymphoproliferation, and malignancy.

A French national registry was used to retrospectively follow 1375 PID patients for 10 years. At the beginning of the study, 37% of patients suffered from noninfectious complications: allergy, autoimmunity, inflammation, or cancer. During the 10-year study period, an additional 20% of patients experienced noninfectious events. Fourteen percent of patients died during the study, with noninfectious events acc…