{alpha}1-antitrypsin PI*SZ genotype: a SERPINA1 deficiency haplotype with uncertain clinical and therapeutic implications

After the discovery of lung emphysema associated with α1-antitrypsin (AAT) deficiency (AATD) in 1963 by Laurell and Eriksson [1], basic and clinical advances in the AATD field have been dramatic and relatively fast [2]. It was soon confirmed that AATD was an inherited codominant recessive condition, but it took seven more years to associate AATD-related lung emphysema with neutrophil elastase [3, 4], and between 7 to 10 years to discover its causal relationship with childhood and adult liver cirrhosis [5, 6], and with neutrophilic panniculitis [7]. In the 1970s, isoelectric focusing (IEF) became the technique of choice for diagnosis, capable of identifying more than 30 AAT variants [8].
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Editorials Source Type: research