Of these, 6% were found to represent SZ/ZZ variants at risk of clinically relevant disease (0.27%, 1/372 requests). The ≤1.1g/l cut-off was 100% sensitive but only 26.5% specific for clinically relevant deficiency alleles. The ≤1.1g/l cut-off could be lowered with improved specificity...
Alpha 1 Antitrypsin Deficiency (AATD) is a rare, inherited lung disease which shares features with Chronic Obstructive Pulmonary Disease (COPD) but has a greater burden of proteinase related tissue damage. These proteinases are associated with cardiovascular disease (CVD) in the general population. It...
a 52 kDa protease inhibitor13. The presence of α1-antitrypsin (α1AT) in inhibitory fractions 42_55 and 42_57 was confirmed by western blot analysis with an α1AT-specific antibody (Supplementary Fig.2c). α1AT belongs to the serine protease inhibitor (serpin) superfamily and protects ...
Analysis of his 100K genome using Exomiser identified a complex variant in a splice region of the CELA1 gene encoding an elastase involved in the pathogenesis of emphysema in α1-antitrypsin deficiency [28]. The same variant was present in patient No. 51. This might be suggesting that the ...