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. 1971 Oct;50(10):2143–2149. doi: 10.1172/JCI106708

Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema

Fred S Rosen 1,2,3,4, Chester A Alper 1,2,3,4, Jack Pensky 1,2,3,4, Martin R Klemperer 1,2,3,4, Virginia H Donaldson 1,2,3,4
PMCID: PMC292148  PMID: 4107267

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Alper C. A., Johnson A. M. Immunofixation electrophoresis: a technique for the study of protein polymorphism. Vox Sang. 1969 Nov;17(5):445–452. doi: 10.1111/j.1423-0410.1969.tb00414.x. [DOI] [PubMed] [Google Scholar]
  2. DONALDSON V. H., EVANS R. R. A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE. Am J Med. 1963 Jul;35:37–44. doi: 10.1016/0002-9343(63)90162-1. [DOI] [PubMed] [Google Scholar]
  3. DONALDSON V. H., ROSEN F. S. ACTION OF COMPLEMENT IN HEREDITARY ANGIONEUROTIC EDEMA: THE ROLE OF C'1-ESTERASE. J Clin Invest. 1964 Nov;43:2204–2213. doi: 10.1172/JCI105094. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Donaldson V. H. Blood coagulation and related plasma enzymes in inflammation. Ser Haematol. 1970;3(1):39–95. [PubMed] [Google Scholar]
  5. Gigli I., Ruddy S., Austen K. F. The stoichiometric measurement of the serum inhibition of the first component of complement by the inhibition of immune hemolysis. J Immunol. 1968 Jun;100(6):1154–1164. [PubMed] [Google Scholar]
  6. HAINES A. L., LEPOW I. H. STUDIES ON HUMAN C'1-ESTERASE. I. PURIFICATION AND ENZYMATIC PROPERTIES. J Immunol. 1964 Mar;92:456–467. [PubMed] [Google Scholar]
  7. Johnson A. M., Schmid K., Alper C. A. Inheritance of human alpha-1-acid glycoprotein (orosomucoid) variants. J Clin Invest. 1969 Dec;48(12):2293–2299. doi: 10.1172/JCI106195. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Laurell A. B., Lindegren J., Malmros I., Mårtensson H. Enzymatic and immunochemical estimation of C'1 esterase inhibitor in sera from patients with hereditary angioneurotic edema. Scand J Clin Lab Invest. 1969 Oct;24(3):221–225. doi: 10.3109/00365516909080156. [DOI] [PubMed] [Google Scholar]
  9. Laurell C. B. Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. Anal Biochem. 1966 Apr;15(1):45–52. doi: 10.1016/0003-2697(66)90246-6. [DOI] [PubMed] [Google Scholar]
  10. PENSKY J., LEVY L. R., LEPOW I. H. Partial purification of a serum inhibitor of C'1-esterase. J Biol Chem. 1961 Jun;236:1674–1679. [PubMed] [Google Scholar]
  11. Pensky J., Schwick H. G. Human serum inhibitor of C'1 esterase: identity with alpha-2-neuraminoglycoprotein. Science. 1969 Feb 14;163(3868):698–699. doi: 10.1126/science.163.3868.698. [DOI] [PubMed] [Google Scholar]
  12. ROSEN F. S., PENSKY J., DONALDSON V., CHARACHE P. HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS. Science. 1965 May 14;148(3672):957–958. doi: 10.1126/science.148.3672.957. [DOI] [PubMed] [Google Scholar]
  13. Ruddy S., Austen K. F. A stoichiometric assay for the fourth component of complement in whole human serum using EAC'la-gp and functionally pure human second component. J Immunol. 1967 Dec;99(6):1162–1172. [PubMed] [Google Scholar]
  14. WARREN L. The thiobarbituric acid assay of sialic acids. J Biol Chem. 1959 Aug;234(8):1971–1975. [PubMed] [Google Scholar]

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