Abstract
Alpha1-antitrypsin (AAT) deficiency is one of the most common genetic diseases and is due to pathogenic variants in the SERPINA1 gene that encodes for AAT, an acute-phase protein with anti-inflammatory and immunomodulatory properties. Although more than 150 pathogenic variants have been described, 95% of individuals with severe AAT deficiency are homozygotes for the Z allele, a substitution of glutamic acid for lysine at residue 342 (p.Glu342Lys) in SERPINA1. This single amino acid change makes Z-AAT prone to aggregation mostly in hepatocytes, the cells that abundantly synthetize and secrete AAT into the circulation.
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