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the three most common phenotypes are: PiM (medium), PiS (slow), and PiZ (very slow) ( Severe A1AT deficiency (A1ATD) is associated with specific variants, such as Z- or S- types, which can result in the early onset and sever development of emphysema, liver disease, and, rarely, multiorgan vasculitis and necrotizing panniculitis ( A1AT is abundant in the plasma with a mean concentration of 1.3 g/L and a plasma half-life of 4-5 days
It also works through a unique amylin-based pathway, which may help preserve lean muscle mass during weight loss
& Hanifpour, M
91 JgerT.DrexlerH.GenT
The mechanism behind this is still unclear, although mutations in ubiquitin-specific protease 8 ( USP8 ), a deubiquitinase enzyme with various targets including EGFR, leading to hyperactivation of this enzyme and subsequent increased EGFR deubiquitination and recirculation to the cell surface, enhance the release of ACTH (147,150)
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