α1-antitrypsin, a 52 kDa antiprotease, provides the major defense to the lower respiratory tract against the ravages of neutrophil elastase, a powerful serine protease. A variety of mutations in the coding exoms of the α1-antitrypsin gene result in ′α1-antitrypsin deficiency′, leading to emphysema at an early age. A subset of mutations cause liver disease and a rare mutations is associated with a bleeding diathesis. Preventive treatment for the emphysema associated with α1-antitrypsin deficiency is available in the form of intermittent infusions with α1-antitrypsin, and strategies have been developed to reverse the deficiency state with gene therapy.
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