Not all subjects develop pulmonary disease and those who do vary in presentation and subsequent decline.3 The first subjects observed with low alpha-1 antitrypsin (AAT) levels were young smokers with basal panacinar emphysema,4 a finding which remains a typical AATD presentation,5,6 though bronchiectasis, neonatal jaundice, liver cirrhosis, and panniculitis may be seen.6–9. This evidence concerns the gene SERPINA1 and alpha 1-antitrypsin deficiency.