Article
α(1)-antitrypsin deficiency and inflammation.
Expert review of clinical immunology - 1 Mar 2011
Ekeowa Ugo I, Marciniak Stefan J, Lomas David A
Abstract excerpt
α(1)-antitrypsin deficiency is an autosomal recessive disorder that results from point mutations in the SERPINA1 gene. The Z mutation (Glu342Lys) accounts for the majority of cases of severe α(1)-antitrypsin deficiency. It causes the protein to misfold into ordered polymers that accumulate within the endoplasmic reticulum of hepatocytes. It is these polymers that form the periodic acid Schiff positive inclusions...
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