Published in Volume
50, Issue 10
(October 1971)J Clin Invest.
1971, The American Society for
Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema
Department of Pediatrics and the Blood Grouping Laboratory, Harvard Medical School, Boston, Massachusetts 02115Institute of Pathology, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106Department of Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio 45220Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45220
Published October 1971
Normal human serum contains 18 ±5 mg/100 ml of C1 esterase inhibitor (alpha-2 neuraminoglycoprotein) as estimated by immunochemical means. Of 118 patients with hereditary angioneurotic edema, the sera of 80, from 42 kindred, contained a mean concentration of 3.15 mg/100 ml or 17.5% of normal. The mean serum concentration in 35 patients in 7 other kindred was 20 mg/100 ml or 111% of normal, and 3 patients in another kindred contained over 80 mg/100 ml or greater than 400% of normal. The nonfunctional inhibitors in patients' sera of these eight kindred were identical with normal C1 esterase inhibitor by Ouchterlony analysis, but they were different from normal and from each other with respect to their electrophoretic mobility, their capacity to bind C1 esterase, and their ability to inhibit esterolysis of N-acetyl-tyrosine-ethylester.
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