Primary immunodeficiency diseases (PID) are a group of rare and chronic disorders characterized by a weakened immune system and an increased susceptibility to infections. There are currently over 400 primary immunodeficiencies resulting from genetic defects that cause part of the immune system to either be missing or not function properly. Some immunodeficiencies present early in childhood, but they can occur at any age.
Primary immunodeficiencies can affect single or multiple components of the immune system, leading to repeated, severe, or even unusual infections. These infections can affect any part of the body, and some people have recurrent infections of the respiratory tract, including recurrent ear infections, sinusitis, bronchitis, and pneumonia. These primary immunodeficiencies can sometimes be clinically similar and difficult to differentiate from mucociliary clearance disorders like primary ciliary dyskinesia.
In addition to infections, people with primary immunodeficiency diseases can present with allergic, autoimmune, and autoinflammatory disorders, as well as have a higher risk for malignancy. With timely care and treatment, many individuals with primary immunodeficiencies can live very normal and full lives. In this Consortium, we will collaborate with immunologists to help identify patients with primary immunodeficiencies and characterize the similarities and differences between those with primary immunodeficiency diseases and primary ciliary dyskinesia.