Skip to main content
PMC home page
Clinical and Experimental Immunology logoLink to Clinical and Experimental Immunology
. 1981 Apr;44(1):173–180.

Familial C1q deficiency associated with renal and cutaneous disease.

F Leyva-Cobián, I Moneo, F Mampaso, M Sánchez-Bayle, J L Ecija, A Bootello
PMCID: PMC1537222  PMID: 6790209

Abstract

A familial C1q deficiency of complement in three siblings has been established. The patients were two brothers and a sister (12, 11 and 9 years old) with clinical and pathological features of Rothmund-Thomson syndrome (Poikiloderma congenital) and mesangial proliferative glomerulonephritis with diffuse IgM deposits. Abnormality has been defined as a total lack of CH50 haemolytic activity, undetectable C1q, failure to correct the defect with functionally pure C2 to C9 complement components, normal values for C2, C3, C4 and C5 and restoration of CH50 haemolytic activity when purified human C1q was added to the assay.

Full text

PDF
173

Images in this article

177Fig. 1
on p.177

Selected References

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

  1. Agnello V., Winchester R. J., Kunkel H. G. Precipitin reactions of the C1q component of complement with aggregated gamma-globulin and immune complexes in gel diffusion. Immunology. 1970 Dec;19(6):909–919. [PMC free article] [PubMed] [Google Scholar]
  2. Arend W. P., Mannik M. In vitro adherence of soluble immune complexes to macrophages. J Exp Med. 1972 Sep 1;136(3):514–531. doi: 10.1084/jem.136.3.514. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Ballow M., Day N. K., Biggar W. D., Park B. H., Yount W. J., Good R. A. Reconstitution of Clq after bone marrow transplantation in patients with severe combined immunodeficiency. Clin Immunol Immunopathol. 1973 Nov;2(1):28–35. doi: 10.1016/0090-1229(73)90033-0. [DOI] [PubMed] [Google Scholar]
  4. Berkel A. I., Loos M., Sanal O., Mauff G., Güngen Y., Ors U., Ersoy F., Yegin O. Clinical and immunological studies in a case of selective complete C1q deficiency. Clin Exp Immunol. 1979 Oct;38(1):52–63. [PMC free article] [PubMed] [Google Scholar]
  5. Cooper N. R., Jensen F. C., Welsh R. M., Jr, Oldstone M. B. Lysis of RNA tumor viruses by human serum: direct antibody-independent triggering of the classical complement pathway. J Exp Med. 1976 Oct 1;144(4):970–984. doi: 10.1084/jem.144.4.970. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Dall'Aglio P., Scarpioni L., Poisetti P. G., Pantano E. Livelli ematici del proattivatore della frazione C3 del complemento nelle nefropatie glomerulari. Minerva Nefrol. 1975 Nov-Dec;22(6):262–265. [PubMed] [Google Scholar]
  7. Day N. K., Geiger H., Stroud R., DeBracco M., Mancaido B., Windhorst D., Good R. A. C1r deficiency: an inborn error associated with cutaneous and renal disease. J Clin Invest. 1972 May;51(5):1102–1108. doi: 10.1172/JCI106902. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. De Bracco M. M., Stroud R. M. C1r, subunit of the first complement component: purification, properties, and assay based on its linking role. J Clin Invest. 1971 Apr;50(4):838–848. doi: 10.1172/JCI106555. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Delâge J. M., Bergeron P., Simard J., Lehner-Netsch G., Prochazka E. Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family. J Clin Invest. 1977 Nov;60(5):1061–1069. doi: 10.1172/JCI108857. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Delâge J. M., Lehner-Netsch G., Lafleur R., Simard J., Brun G., Prochazka E. Simultaneous occurrence of hereditary C6 and C2 deficiency in a French-Canadian family. Immunology. 1979 Jun;37(2):419–428. [PMC free article] [PubMed] [Google Scholar]
  11. Gewurz H., Pickering R. J., Christian C. L., Snyderman R., Mergenhagen S. E., Good R. A. Decreased C'-1q protein concentration and agglutinating activity in agammaglobulinaemia syndromes: an inborn error reflected in the complement system. Clin Exp Immunol. 1968 Jun;3(5):437–445. [PMC free article] [PubMed] [Google Scholar]
  12. 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]
  13. Kohler P. F., Müller-Eberhard H. J. Metabolism of human C1q. Studies in hypogammaglobulinemia, myeloma, and systemic lupus erythematosus. J Clin Invest. 1972 Apr;51(4):868–875. doi: 10.1172/JCI106881. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Kolb W. P., Kolb L. M., Podack E. R. C1q: isolation from human serum in high yield by affinity chromatography and development of a highly sensitive hemolytic assay. J Immunol. 1979 May;122(5):2103–2111. [PubMed] [Google Scholar]
  15. Lachmann P. J., Hobart M. J. Complement genetics in relation to HLA. Br Med Bull. 1978 Sep;34(3):247–252. doi: 10.1093/oxfordjournals.bmb.a071505. [DOI] [PubMed] [Google Scholar]
  16. Lee S. L., Wallace S. L., Barone R., Blum L., Chase P. H. Familial deficiency of two subunits of the first component of complement. C1r and C1s associated with a lupus erythematosus-like disease. Arthritis Rheum. 1978 Nov-Dec;21(8):958–967. doi: 10.1002/art.1780210813. [DOI] [PubMed] [Google Scholar]
  17. Marder R. J., Burch F. X., Schmid F. R., Zeiss C. R., Gewurz H. Low molecular weight C1q-precipitins in hypocomplementemic vasculitis-urticaria syndrome: partial purification and characterization as immunoglobulin. J Immunol. 1978 Aug;121(2):613–618. [PubMed] [Google Scholar]
  18. Markenson J. A., Phillips P. E. Type C viruses and systemic lupus erythematosus. Arthritis Rheum. 1978 Mar;21(2):266–270. doi: 10.1002/art.1780210217. [DOI] [PubMed] [Google Scholar]
  19. Moncada B., Day N. K., Good R. A., Windhorst D. B. Lupus-erythematosus-like syndrome with a familial defect of complement. N Engl J Med. 1972 Mar 30;286(13):689–693. doi: 10.1056/NEJM197203302861304. [DOI] [PubMed] [Google Scholar]
  20. Pondman K. W., Hannema A., Cormane R., Stoop J. W. Ongewone complementdeficiëntie bij een patiëntje met lupus erythematosus disseminatus. Ned Tijdschr Geneeskd. 1969 Aug 23;113(34):1462–1469. [PubMed] [Google Scholar]
  21. Rich K. C., Jr, Hurley J., Gewurz H. Inborn C1r dificiency with a mild lupus-like syndrome. Clin Immunol Immunopathol. 1979 May;13(1):77–84. doi: 10.1016/0090-1229(79)90022-9. [DOI] [PubMed] [Google Scholar]
  22. Sams W. M., Jr Hypocomplementemia with cutaneous vasculitis and arthritis: a new syndrome. Arch Dermatol. 1974 Aug;110(2):290–290. doi: 10.1001/archderm.110.2.290. [DOI] [PubMed] [Google Scholar]
  23. Takada A., Imamura Y., Takada Y. Relationships between the haemolytic activities of the human complement system and complement components. Clin Exp Immunol. 1979 Feb;35(2):324–328. [PMC free article] [PubMed] [Google Scholar]
  24. Theofilopoulos A. N., Andrews B. S., Urist M. M., Morton D. L., Dixon F. J. The nature of immune complexes in human cancer sera. J Immunol. 1977 Aug;119(2):657–663. [PubMed] [Google Scholar]
  25. Thompson R. A., Haeney M., Reid K. B., Davies J. G., White R. H., Cameron A. H. A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis. N Engl J Med. 1980 Jul 3;303(1):22–24. doi: 10.1056/NEJM198007033030107. [DOI] [PubMed] [Google Scholar]
  26. Wara D. W., Reiter E. O., Doyle N. E., Gewurz H., Ammann A. J. Persistent Clq deficiency in a patient with a systemic lupus erythematosus-like syndrome. J Pediatr. 1975 May;86(5):743–745. doi: 10.1016/s0022-3476(75)80363-5. [DOI] [PubMed] [Google Scholar]
  27. de Bracco M. M., Windhorst D., Stroud R. M., Moncada B. The autosomal recessive mode of inheritance of C1r deficiency in a large Puerto Rican family. Clin Exp Immunol. 1974 Feb;16(2):183–188. [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES