Genetic causes of bronchiectasis: primary immune deficiencies and the lung.

摘要: Primary immune deficiencies (PID) comprise a heterogeneous group of genetically determined disorders that affect development and/or function innate or adaptive immunity. Consequently, patients with PID suffer from recurrent severe infections frequently involve the lung. While nature defect often dictates type pathogens may cause lung infection, there is substantial overlap radiological findings, so appropriate laboratory tests are mandatory to define and prompt treatment. At same time, recent identification large number PID-causing genes now allows early, even presymptomatic diagnosis, thus representing an essential tool for prevention damage. This review article describes most common forms PID, their cellular molecular bases, associated abnormalities, reports on available