Alpha1-antitrypsin deficiency (AATD) is a rare hereditary condition characterised by low plasma levels of alpha1-antitrypsin (AAT), a serine protease inhibitor synthesised and secreted mainly by hepatocytes, of which the primary role is to protect the lung parenchyma from proteolytic enzymes such as neutrophil elastase (NE) and proteinase 3. The gene discussed is ELANE; the disease is alpha 1-antitrypsin deficiency.