title: Familial alpha 1-antichymotrypsin deficiency.
abstract: We studied patients and their relatives with partial deficiency, approximately 50% of normal plasma levels, of alpha 1-antichymotrypsin (ACT), an acute phase reactant with anti-cathepsin G activity. Six of eight ACT deficient individuals, over 25 years of age, had liver and three of eight lung manifestations, varying from severe disease to subtle laboratory abnormalities. The ACT of deficient individuals (who are heterozygotes for a rare gene, q = 0.003) had normal crossed immunoelectrophoretic properties. The abnormal gene is inherited in an autosomal, dominant way. The results suggest that deficiency of this antiprotease, which also has immune response modulating properties, may predispose to liver and lung disease.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D008099:Liver / Q000201:enzymology; D008107:Liver Diseases / Q000201:enzymology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D000514:alpha 1-Antichymotrypsin / Q000172:deficiency* / Q000235:genetics
chemical_list: D000514:alpha 1-Antichymotrypsin