Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema
Open Access
- 1 October 1971
- journal article
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 50 (10), 2143-2149
- https://doi.org/10.1172/jci106708
Abstract
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.This publication has 14 references indexed in Scilit:
- Inheritance of human α1-acid glycoprotein (orosomucoid) variantsJCI Insight, 1969
- Immunofixation Electrophoresis: A Technique for the Study of Protein Polymorphism1Vox Sanguinis, 1969
- Human Serum Inhibitor of C′1 Esterase: Identity with NeuraminoglycoproteinScience, 1969
- Enzymatic and Immunochemical Estimation of C'l Esterase Inhibitor in Sera from Patients with Hereditary Angioneurotic EdemaScandinavian Journal of Clinical and Laboratory Investigation, 1969
- The Stoichiometric Measurement of the Serum Inhibitor of the First Component of Complement by the Inhibition of Immune HemolysisThe Journal of Immunology, 1968
- Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodiesAnalytical Biochemistry, 1966
- Action of Complement in Hereditary Angioneurotic Edema: The Role of C′1-Esterase *JCI Insight, 1964
- STUDIES ON HUMAN C'1-ESTERASE. I. PURIFICATION AND ENZYMATIC PROPERTIES.1964
- A biochemical abnormality in hereditary angioneurotic edema: Absence of serum inhibitor of C′1-esteraseAmerican Journal Of Medicine, 1963
- Partial Purification of a Serum Inhibitor of C'1-EsteraseOnline Journal of Public Health Informatics, 1961