Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family

Kidney International

Volumn 50, Issue 2, 1996, Pages 635-642

  Topaloglu, Rezan ^a   Bakkaloglu, Aysin ^b   Slingsby, Jason H ^b   Mihatsch, Michael J ^b   Pascual, M ^b   Norsworthy, Peter ^b   Morley, Bernard J ^b   Saatci, Umit ^b   Schifferli, Jurg A ^b   Walport, Mark J ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1Q; FRESH FROZEN PLASMA; IMMUNOGLOBULIN; PREDNISOLONE; RECOMBINANT HEPATITIS B VACCINE;

ADOLESCENT; ANTIBODY RESPONSE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COMPLEMENT DEFICIENCY; DISEASE ASSOCIATION; DNA DETERMINATION; FEMALE; GENE MUTATION; HEPATITIS B; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN A NEPHROPATHY; IMMUNOHISTOLOGY; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYSTEMIC LUPUS ERYTHEMATOSUS;

EID: 9444254614     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1038/ki.1996.359     Document Type: Article

References (32)

1. BERKEL AI, SANAL O, THESEN R, Loos M: A case of selective C1q deficiency. Turk J Pediat 19:101-108, 1977
2. LOOS M, HEINZ HP: Component deficiencies 1. The first component: C1q. C1r, C1s. Progr Allergy 39:212-231, 1986
3. BOWNESS P, DAVIES KA, NORSWORTHY PJ, ATHANASSIOU P, TAYLORWIEDEMAN J, BORYSIEWICZ LK, MEYER PAR, WALPORT MJ: Hereditary C1q deficiency and systemic lupus erythematosus. Quart J Med 87:455-464, 1994
4. SLINGSBY JH, NORSWORTHY P, PEARCE G, VAISHNAW AK, ISSLER H, MORLEY BJ, WALPORT MJ: Homozygous hereditary C1q deficiency and SLE: A new family and the molecular basis of C1q deficiency in three families. Arthritis Rheum (in press)
5. HEDGE PJ, SELLAR GC, REID KBM, SOLOMON E: Assigment of the A chain of C1q (C1QA) to the short arm of chromosome 1. (abstract) Cytogenet Cell Genet 46:627, 1987
6. SELLAR GC, GOUNDIS D, MCADAM RA, SOLOMON E, REID KBM: Cloning and chromosomal localisation of the A chain of human C1q: Identification of molecular defect in a C1q deficient patient. (abstract) Complement Inflamm 4:225, 1987
7. SELLAR GC, COCKBURN D, REID KBM: Localization of the gene cluster encoding the A, B, and C chain of human C1q to 1p34.1-1p36.3. Immunogenetics 35:214-216, 1992
8. MCADAM RA, GOUNDIS D, REID KBM: A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q deficient individual. Immunogenetics 27:259-264, 1988
9. PETRY F, DUC TOAN L, KIRSCHFINK M, Loos M: Non-sense and missense mutations in the structural genes of complement component C1q A and C chains are linked with two different types of complete selective C1q deficiency. J Immunol 155:4734-4738, 1995
10. KIRSCHFINK M, PETRY F, KHIRWADKAR K, WIGAND R, KALTWASSER JP, Loos M: Complete functional C1q deficiency associated with systemic lupus erythematosus (SLE). Clin Exp Immunol 94:267-272, 1993
11. PEPYS MB: Role of complement in the induction of immunological responses. Transplant Rev 32:93-120, 1976
12. BOTTGER EC, BITTER-SUERMANN D: Complement and regulation of humoral immune responses. Immunol Today 8:261-264, 1987
13. PEPYS MB: Role of complement in induction of antibody production in vivo. Effect of cobra factor and other C3-reactive agents on thymus-dependent and thymus-independent antibody responses. J Exp Med 140:126-145, 1974
14. SCHIFFERLI JA, YIN C, PETERS DK: The role of complement and its receptor in the elimination of immune complexes. N Engl J Med 315:488-495, 1986
15. MORGAN BP, WALPORT MJ: Complement deficiency and disease. Immunol Today 12:301-306, 1991
16. WYATT RJ, JULIAN B, GALLA JH: Properdin deficiency with IgA nephropathy. N Engl J Med 305:1097, 1981
17. WYATT RJ, JULIAN BA, WEINSTEIN A, ROTHFIELD NF, MCLEAN RH: Partial H (a1H) deficiency and glomerulonephritis in two families. J Clin Immunol 2:110-117, 1982
18. IMAI K, NAKAJIMA K, EGUCHI K, MIYAZAKI M, ENDOH M, TOMINO Y, NOMOTO Y, SAKAI H, HYODO Y: Homozygous C3 deficiency associated with IgA nephropathy. Nephron 59:148-152, 1991
19. HARRISON RA, LACHMANN PJ: Complement technology, in Handbook of Experimental Immunology (4th ed), edited by WEIR DM, Oxford, Blackwell Scientific Publications, 1986, 39.1-39.49
20. SIEGERT CE, DAHA MR, HALMA C, VAN DER VOORT EA, BREEDVELD FC: IgG and IgA autoantibodies to C1q in systemic and renal diseases. Clin Exp Rheumatol 10:19-23, 1992
21. SAMBROOK J, FRITSCH EF, MANIATIS T: Molecular Cloning: A Laboratory Manual (2nd ed). Cold Spring Harbor, Cold Spring Harbor Laboratory Press, 1989
22. TOTH J, STARSIA Z, BUC M, STEFANOVIC J: Family study of natural cell killer cell activity in C1q deficient patients with systemic lupus erythematosus-like syndrome: Association between impaired natural killer cell function and C1q deficiency, Immunobiol 180:45-54, 1989
23. SUMIYA M, SUPER M, TABONA P, LEVINSKY RJ, ARAI T, TURNER MW, SUMMERFIELD JA: Molecular basis of opsonic defect in immunodeficient children. Lancet 337:1569-1570, 1991
24. SRINIVASAN J, BECK P: IgA nephropathy in hereditary angioedema. Postgrad Med J 69:95-99, 1993
25. DONALDSON VH, HESS EV, MCADAMS AJ: Lupus-erythematosus-like disease in three unrelated women with hereditary angioneurotic edema. (letter) Ann Intern Med 86:312-313, 1977
26. ERDEI A, FUST G, GERGELY J: The role of C3 in the immune response. Immunol Today 12:332-337, 1991
27. BOTTGER EC, METZGER S, BITTER-SUERMANN D, STEVENSON G, KLEINDIENST S, BURGER R: Impaired humoral immune response in complement C3-deficient guinea pigs: Absence of secondary antibody response. Eur J Immunol 16:1231-1235, 1986
28. O'NEIL KM, OCHS HD, HELLER SR, CORK LC, MORRIS JM, WINKELSTEIN JA: Role of C3 in humoral immunity: Defective antibody production in C3 deficient dogs. J Immunol 140:1939-1945, 1988
29. ALPER CA, COLTEN HR, GEAR JS, RABSON A, ROSEN FS: Homozygous human C3 deficiency. The role of C3 in antibody production, C1s-induced vasopermeability, and cobra venom-induced passive hemolysis. J Clin Invest 57:222-229, 1976
30. OCHS HD, WEDGWOOD RJ, HELLER SR, BEATTY PG: Complement, membrane glycoproteins, and complement receptors: Their role in regulation of the immune response. Clin Immunol Immunopathol 40:94-104, 1986
31. ROORD JJ, DAHA M, KUIS W, VERBRUGH HA, VERHOEF J, ZEGERS BJM, STOOP JW: Inherited deficiency of the third component of complement associated with recurrent pyogenic infections, circulating immune-complexes, and vasculitis in a Dutch family. Pediatrics 71:81-87, 1983
32. HSIEH KH, LIN CY, LEE TC: Complete absence of the third component of complement in a patient with repeated infections. Clin Immunol Immnunopathol 20:305-312, 1981