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. 1975 Oct;56(4):905–913. doi: 10.1172/JCI108170

Hereditary deficiency of the seventh component of complement.

J T Boyer, E P Gall, M E Norman, U R Nilsson, T S Zimmerman
PMCID: PMC301946  PMID: 1099121

Abstract

Deficiency of the seventh component of complement has been found in the serum of a 42-yr-old Caucasian woman who has Raynaud's phenomenon, sclerodactyly, and telangiectasia. Partial deficiency was found in the serum of the patient's parents and children, indicating a pattern of inheritance of autosomal codominance. Transfusion experiments indicated that exogenous C7 had a 91-h halk-life in the patient. There was no evidence for C7 synthesis after transfusion. No C7 inhibitors were detected in the patient's serum. The patient's serum was found to support the activation of complement by both the classical and properdin pathways to the C7 stage. The addition of C7 to the patient's serum permitted it to support hemolytic reactions initiated by either pathway. No defects could be detected in plasma or whole blood coagulation. The patient's serum was deficient in opsonizing unsensitized yeast particles in serum and in the generation of chemotactic factor by antigen-antibody complexes and endotoxin. Both deficiencies were corrected by the addition of C7. These observations suggest a key role for C7 for in vitro yeast phagocytosis and chemotaxis generation. However, the patient's lack of infections indicates a relatively minor role for C7 in human resistance to infection.

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Selected References

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

  1. BLOMBACK M., JORPES J. E., NILSSON I. M. von Willebrand's disease. Am J Med. 1963 Feb;34:236–241. doi: 10.1016/0002-9343(63)90057-3. [DOI] [PubMed] [Google Scholar]
  2. Boyer J. T. Complement and cold agglutinins. II. Interactions of the components of complement and antibody within the haemolytic complex. Clin Exp Immunol. 1967 Mar;2(2):241–252. [PMC free article] [PubMed] [Google Scholar]
  3. Gaither T. A., Frank M. M. Studies of complement-mediated membrane damage: the influence of erythrocyte storage on susceptibility to cytolysis. J Immunol. 1973 Feb;110(2):482–489. [PubMed] [Google Scholar]
  4. Gigli I., Nelson R. A., Jr Complement dependent immune phagocytosis. I. Requirements for C'1, C'4, C'2, C'3. Exp Cell Res. 1968 Jul;51(1):45–67. doi: 10.1016/0014-4827(68)90158-4. [DOI] [PubMed] [Google Scholar]
  5. Heusinkveld R. S., Leddy J. P., Klemperer M. R., Breckenridge R. T. Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis. J Clin Invest. 1974 Feb;53(2):554–558. doi: 10.1172/JCI107589. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Hinz C. F., Jr The hemolytic reaction in paroxysmal nocturnal hemoglobinuria. Prog Hematol. 1966;5:60–82. [PubMed] [Google Scholar]
  7. Lachmann P. J., Kay A. B., Thompson R. A. The chemotactic activity for neutrophil and eosinophil leucocytes of the trimolecular complex of the fifth, sixth and seventh components of human complement (C567) prepared in free solution by the 'reactive lysis' procedure. Immunology. 1970 Dec;19(6):895–899. [PMC free article] [PubMed] [Google Scholar]
  8. Leddy J. P., Frank M. M., Gaither T., Baum J., Klemperer M. R. Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies. J Clin Invest. 1974 Feb;53(2):544–553. doi: 10.1172/JCI107588. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Miller M. E., Nilsson U. R. A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5). N Engl J Med. 1970 Feb 12;282(7):354–358. doi: 10.1056/NEJM197002122820702. [DOI] [PubMed] [Google Scholar]
  10. Nilsson U. R., Müller-Eberhard H. J. Studies on the mode of action of the fifth, sixth and seventh component of human complement in immune haemolysis. Immunology. 1967 Jul;13(1):101–117. [PMC free article] [PubMed] [Google Scholar]
  11. Nilsson U. R., Tomar R. H., Taylor F. B., Jr Additional studies on human C5: development of a modified purification method and characterization of the purified product by polyacrylamide gel electrophoresis. Immunochemistry. 1972 Jul;9(7):709–723. doi: 10.1016/0019-2791(72)90015-8. [DOI] [PubMed] [Google Scholar]
  12. Norman M. E., Miller M. E. Spontaneous chemotaxis in acute glomerulonephritis: demonstration of a positive correlation with disease activity. J Pediatr. 1974 Jul;85(1):20–24. doi: 10.1016/s0022-3476(74)80278-7. [DOI] [PubMed] [Google Scholar]
  13. Pfueller S. L., Lüscher E. F. Studies of the mechanisms of the human platelet release reaction induced by immunologic stimuli. II. The effects of zymosan. J Immunol. 1974 Mar;112(3):1211–1218. [PubMed] [Google Scholar]
  14. Rother K., Rother U., Müller-Eberhard H. J., Nilsson J. R. Deficiency of the sixth component of complement in rabbits with an inherited complement defect. J Exp Med. 1966 Oct 1;124(4):773–785. doi: 10.1084/jem.124.4.773. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Thompson R. A., Lachmann P. J. Reactive lysis: the complement-mediated lysis of unsensitized cells. I. The characterization of the indicator factor and its identification as C7. J Exp Med. 1970 Apr 1;131(4):629–641. doi: 10.1084/jem.131.4.629. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Westberg N. G., Naff G. B., Boyer J. T., Michael A. F. Glomerular deposition of properdin in acute and chronic glomerulonephritis with hypocomplementemia. J Clin Invest. 1971 Mar;50(3):642–649. doi: 10.1172/JCI106534. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Zimmerman T. S., Arroyove C. M., Müller-Eberhard H. J. A blood coagulation abnormality in rabbits deficient in the sixth component of complement (C6) and its correction by purified C6. J Exp Med. 1971 Dec 1;134(6):1591–1600. doi: 10.1084/jem.134.6.1591. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Zucker M. B., Grant R. A. Aggregation and release reaction induced in human blood platelets by zymosan. J Immunol. 1974 Mar;112(3):1219–1230. [PubMed] [Google Scholar]

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