Skip to main content
NCBI home page
Clinical and Experimental Immunology logoLink to Clinical and Experimental Immunology
. 1989 Apr;76(1):76–81.

Familial properdin deficiency associated with chronic discoid lupus erythematosus.

E R Holme 1, J Veitch 1, A Johnston 1, G Hauptmann 1, B Uring-Lambert 1, M Seywright 1, V Docherty 1, W N Morley 1, K Whaley 1
PMCID: PMC1541745  PMID: 2736801

Abstract

A large family comprised of 18 members is described. Four male members are properdin-deficient, all are healthy bar the index patient who presented with chronic discoid lupus erythematosus. Serum from properdin-deficient males had a reduced ability to lyse rabbit erythrocytes via the alternative pathway or solubilize pre-formed immune complexes. Addition of purified properdin restored these activities. Classical pathway activity was normal. Definite, probable and possible female carriers had normal classical and alternative pathway activities.

Full text

PDF
76

Images in this article

77Fig. 1
on p.77

Selected References

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

  1. Ahmed A. E., Whaley K. Purification of a plasma protein that inhibits complement-mediated prevention of immune precipitation. Immunology. 1988 May;64(1):45–50. [PMC free article] [PubMed] [Google Scholar]
  2. Alper C. A., Boenisch T., Watson L. Genetic polymorphism in human glycine-rich beta-glycoprotein. J Exp Med. 1972 Jan;135(1):68–80. doi: 10.1084/jem.135.1.68. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Awdeh Z. L., Alper C. A. Inherited structural polymorphism of the fourth component of human complement. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3576–3580. doi: 10.1073/pnas.77.6.3576. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Densen P., Weiler J. M., Griffiss J. M., Hoffmann L. G. Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination. N Engl J Med. 1987 Apr 9;316(15):922–926. doi: 10.1056/NEJM198704093161506. [DOI] [PubMed] [Google Scholar]
  5. Fearon D. T., Austen K. F., Ruddy S. Properdin factor D. II. Activation to D by properdin. J Exp Med. 1974 Aug 1;140(2):426–436. doi: 10.1084/jem.140.2.426. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Gelfand E. W., Rao C. P., Minta J. O., Ham T., Purkall D. B., Ruddy S. Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia. Am J Med. 1987 Mar 23;82(3 Spec No):671–675. doi: 10.1016/0002-9343(87)90122-7. [DOI] [PubMed] [Google Scholar]
  7. Gell J., Tye M. J., Agnello V. Selective depression of the C4 component of complement: evidence for an association with genetic deficiency of C4 and dermatologic diseases. Diagn Immunol. 1983;1(1):49–55. [PubMed] [Google Scholar]
  8. Hiemstra P. S., Gorter A., Stuurman M. E., Van Es L. A., Daha M. R. The IgA-binding lectin jacalin induces complement activation by inhibition of C-1-inactivator function. Scand J Immunol. 1987 Aug;26(2):111–117. doi: 10.1111/j.1365-3083.1987.tb02243.x. [DOI] [PubMed] [Google Scholar]
  9. Holme E., Cross S. J., Veitch J., O'Neill G. J., Whaley K. Quantitation of human C4A and C4B, in serum and plasma by enzyme-linked immunoadsorbent assay. Immunogenetics. 1988;27(4):295–297. doi: 10.1007/BF00376126. [DOI] [PubMed] [Google Scholar]
  10. KENT J. F., FIFE E. H., Jr Precise standardization of reagents for complement fixation. Am J Trop Med Hyg. 1963 Jan;12:103–116. doi: 10.4269/ajtmh.1963.12.103. [DOI] [PubMed] [Google Scholar]
  11. Naama J. K., Mitchell W. S., Zoma A., Veitch J., Whaley K. Complement-mediated inhibition of immune precipitation in patients with immune complex diseases. Clin Exp Immunol. 1983 Feb;51(2):292–298. [PMC free article] [PubMed] [Google Scholar]
  12. Nelson B., Ruddy S. Enhancing role of IgG in lysis of rabbit erythrocytes by the alternative pathway of human complement. J Immunol. 1979 May;122(5):1994–1999. [PubMed] [Google Scholar]
  13. Nielsen H. E., Koch C. Congenital properdin deficiency and meningococcal infection. Clin Immunol Immunopathol. 1987 Aug;44(2):134–139. doi: 10.1016/0090-1229(87)90060-2. [DOI] [PubMed] [Google Scholar]
  14. Ross S. C., Densen P. Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. Medicine (Baltimore) 1984 Sep;63(5):243–273. [PubMed] [Google Scholar]
  15. Schifferli J. A., Peters D. K. Complement, the immune-complex lattice, and the pathophysiology of complement-deficiency syndromes. Lancet. 1983 Oct 22;2(8356):957–959. doi: 10.1016/s0140-6736(83)90464-6. [DOI] [PubMed] [Google Scholar]
  16. Schifferli J. A., Steiger G., Hauptmann G., Spaeth P. J., Sjöholm A. G. Formation of soluble immune complexes by complement in sera of patients with various hypocomplementemic states. Difference between inhibition of immune precipitation and solubilization. J Clin Invest. 1985 Dec;76(6):2127–2133. doi: 10.1172/JCI112217. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Sim E., Cross S. J. Phenotyping of human complement component C4, a class-III HLA antigen. Biochem J. 1986 Nov 1;239(3):763–767. doi: 10.1042/bj2390763. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Sjöholm A. G., Braconier J. H., Söderström C. Properdin deficiency in a family with fulminant meningococcal infections. Clin Exp Immunol. 1982 Nov;50(2):291–297. [PMC free article] [PubMed] [Google Scholar]
  19. Thompson R. A., Winterborn M. H. Hypocomplementaemia due to a genetic deficiency of beta 1H globulin. Clin Exp Immunol. 1981 Oct;46(1):110–119. [PMC free article] [PubMed] [Google Scholar]
  20. Uring-Lambert B., Gas S., Goetz J., Mauff G., Goldmann S. F., Frössler M., Bender K., Hauptmann G. Detection of the genetic polymorphism of human C2 (native protein and C2a fragment) by immunoblotting after polyacrylamide gel isoelectric focusing. Complement. 1985;2(4):185–192. doi: 10.1159/000467861. [DOI] [PubMed] [Google Scholar]
  21. Voigtländer V., Bahmer F., Hauptmann G. Familial discoid lupus erythematosus associated with heterozygous C4 deficiency. Acta Derm Venereol. 1984;64(6):552–554. [PubMed] [Google Scholar]

Articles from Clinical and Experimental Immunology are provided here courtesy of British Society for Immunology

RESOURCES