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α1-antitrypsin deficiency: what has it ever done for us?


PMID 24297124

Abstract

The first five cases of α1-antitrypsin deficiency were originally published in 1963. This changed our whole concept about the pathophysiology of emphysema, including the role of inflammation and, in particular, the role of proteolytic enzymes. However, the observation also had a significant 50-year impact on many aspects of protein biochemistry, genetics, cell biology, and disease concepts outside the lung as well as the study of COPD in general.