Primary immunodeficiencies (PID) comprise a heterogeneous group of more than 300 different inherited disorders, each one of them caused by a different genetic defect. Our diagnostic panel includes genes that have been associated with a defect in the adaptive or innate immune responses. This defect can be caused by a specific or combined lymphocytes deficiency, a defect related to phagocytosis or to the host’s immunological defense barrier, or a complement deficiency. Most affected people have a higher susceptibility to infections in different organs. Recurring involvement of the airways could lead to the development of bronchiectasis. The phenotypic complexity and overlap of PID make genetic testing an essential tool to diagnose and understand the disease and, therefore, to provide a better treatment to patients.

To know more about the most appropriate tests for these patients, please see our immune disorders portfolio: