Complement component deficiencies in human disease;Déficits en protéines du complément en pathologie humaine

Presse Medicale

Volumn 35, Issue 5 II, 2006, Pages 861-870

  Dragon Durey, Marie Agnès ^a   Fremeaux Bacchi, Véronique ^a  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT; COMPLEMENT COMPONENT C1S INHIBITOR; COMPLEMENT COMPONENT C3A;

ANGIONEUROTIC EDEMA; AUTOIMMUNE DISEASE; CLINICAL FEATURE; COMPLEMENT ACTIVATION; COMPLEMENT DEFICIENCY; GENETIC SUSCEPTIBILITY; HERITABILITY; HUMAN; INFECTION RISK; INFECTION SENSITIVITY; INFLAMMATORY INFILTRATE; INNATE IMMUNITY; KIDNEY DISEASE; MENINGOCOCCEMIA; RECURRENT DISEASE; REVIEW;

EID: 33646755440     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0755-4982(06)74705-4     Document Type: Article

References (37)

1. Barilla-LaBarca ML, Atkinson JP. Rheumatic syndromes associated with complement deficiency. Curr Opin Rheumatol. 2003; 15: 55-60.
2. Jonsson G, Truedsson L, Sturfelt G, Oxelius VA, Braconier JH, Sjoholm AG. Hereditary C2 deficiency in Sweden: frequent occurrence of invasive infection, atherosclerosis, and rheumatic disease. Medicine (Baltimore). 2005; 84: 23-34.
3. Yang Y, Chung EK, Zhou B, Lhotta K, Hebert LA, Birmingham DJ et al. The intricate role of complement component C4 in human systemic lupus erythematosus. Curr Dir Autoimmun. 2004; 7: 98-132.
4. Dragon-Durey MA, Quartier P, Fremeaux-Bacchi V, Blouin J, de Barace C, Prieur AM et al. Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. J Immunol. 2001; 166: 7612-6.
5. Chung EK, Yang Y, Rennebohm RM, Lokki ML, Higgins GC, Jones KN et al. Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex. Am J Hum Genet. 2002; 71: 823-37.
6. Hartmann D, Fremeaux-Bacchi V, Weiss L, Meyer A, Blouin J, Hauptmann G et al. Combined heterozygous deficiency of the classical complement pathway proteins C2 and C4. J Clin Immunol. 1997; 17: 176-84.
7. Turner MW. The role of mannose-binding lectin in health and disease. Mol Immunol. 2003; 40: 423-9.
8. Seelen MA, van der Bijl EA, Trouw LA, Zuiverloon TC, Munoz JR, Fallaux-van den Houten FC et al. A role for mannose-binding lectin dysfunction in generation of autoantibodies in systemic lupus erythematosus. Rheumatology. 2005; 44: 111-9.
9. Fremeaux-Bacchi V, Weiss L, Demouchy C, Blouin J, Kazatchkine MD. Autoantibodies to the collagen-like region of C1q are strongly associated with classical pathway-mediated hypocomplementemia in systemic lupus erythematosus. Lupus. 1996; 5: 216-20.
10. Trendelenburg M, Marfurt J, Gerber I, Tyndall A, Schifferli JA. Lack of occurrence of severe lupus nephritis among anti-C1q autoantibody-negative patients. Arthritis Rheum. 1999; 42: 187-88.
11. Korb LC, Ahearn JM. C1q binds directly and specifically to surface blebs of apoptotic human keratinocytes: complement deficiency and systemic lupus erythematosus revisited. J Immunol. 1997; 158: 4525-8.
12. Mitchell DA, Pickering MC, Warren J, Fossati-Jimack L, Cortes-Hernandez J, Cook HT et al. C1q deficiency and autoimmunity: the effects of genetic background on disease expression. J Immunol. 2002; 168: 2538-43.
13. Nauta AJ, Trouw LA, Daha MR, Tijsma O, Nieuwland R, Schwaeble WJ et al. Direct binding of C1q to apoptotic cells and cell blebs induces complement activation. Eur J Immunol. 2002; 32: 1726-36.
14. Nauta AJ, Castellano G, Xu W, Woltman AM, Borrias MC, Daha MR et al. Opsonization with C1q and mannose-binding lectin targets apoptotic cells to dendritic cells. J Immunol. 2004; 173: 3044-50.
15. Manderson AP, Botto M, Walport MJ. The role of complement in the development of systemic lupus erythematosus. Annu Rev Immunol. 2004; 22: 431-56.
16. Taylor PR, Carugati A, Fadok VA, Cook HT, Andrews M, Carroll MC et al. A hierarchical role for classical pathway complement proteins in the clearance of apoptotic cells in vivo. J Exp Med. 2000; 192: 359-66.
17. Fujisaku A, Harley JB, Frank MB, Gruner BA, Frazier B, Holers VM. Genomic organization and polymorphisms of the human C3d/Epstein-Barr virus receptor. J Biol Chem. 1989; 264: 2118-25.
18. Dragon-Durey MA, Fremeaux-Bacchi V. Atypical haemolytic uraemic syndrome and mutations in complement regulator genes. Springer Semin Immunopathol. 2005; 27: 359-74.
19. Fremeaux-Bacchi V, Kemp EJ, Goodship JA, Dragon-Durey MA, Strain L, Loirat C et al. The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. J Med Genet. 2005; 42: 852-6.
20. Dragon-Durey MA, Loirat C, Cloarec S, Macher MA, Blouin J, Nivet H et al. Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2005; 16: 555-63.
21. Appel GB, Cook HT, Hageman G, Jennette JC, Kashgarian M, Kirschfink M et al. Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. J Am Soc Nephrol. 2005; 16: 1392-403.
22. Jokiranta TS, Solomon A, Pangburn MK, Zipfel PF, Meri S. Nephritogenic lambda light chain dimer: a unique human miniautoantibody against complement factor H. J Immunol. 1999; 163: 4590-6.
23. Dragon-Durey MA, Fremeaux-Bacchi V, Blouin J, Barraud D, Fridman WH, Kazatchkine MD. Restricted genetic defects underlie human complement C6 deficiency. Clin Exp Immunol. 2003; 132: 87-91.
24. Rameix-Welti MA, Chedani H, Blouin J, Alonso JM, Fridman WH, Fremeaux-Bacchi V. Neisseria meningitidis infection. Clinical criteria orienting towards a deficiency in the proteins of the complement]. Presse Med. 2005; 34: 425-30.
25. Fijen CA, van den Bogaard R, Schipper M, Mannens M, Schlesinger M, Nordin FG et al. Properdin deficiency: molecular basis and disease association. Mol Immunol. 1999; 36: 863-7.
26. Eisen DP, Minchinton RM. Impact of mannose-binding lectin on susceptibility to infectious diseases. Clin Infect Dis. 2003; 37: 1496-505.
27. Cicardi M, Zingale L, Zanichelli A, Pappalardo E, Cicardi B. C1 inhibitor: molecular and clinical aspects. Springer Semin Immunopathol. 2005; 27: 286-98.
28. Fremeaux-Bacchi V, Guinnepain MT, Cacoub P, Dragon-Durey MA, Mouthon E, Blouin J et al. Prevalence of monoclonal gammopathy in patients presenting with acquired angioedema type 2. Am J Med. 2002; 113: 194-9.
29. Han ED, MacFarlane RC, Mulligan AN, Scafidi J, Davis AE, 3rd. Increased vascular permeability in C1 inhibitor-deficient mice mediated by the bradykinin type 2 receptor. J Clin Invest. 2002; 109: 1057-63.
30. Meri S, Morgan BP, Davies A, Daniels RH, Olavesen MG, Waldmann H, Fachmann PJ. Human protectin (CD59), an 18,000-20,000 MW complement lysis restricting factor, inhibits C5b-8 catalysed insertion of C9 into lipid bilayers. Immunology. 1990; 71: 1-9.
31. Krauss JS. Laboratory diagnosis of paroxysmal nocturnal hemoglobinuria. Ann Clin Lab Sci. 2003; 33: 401-6.
32. Hillmen P, Hall C, Marsh JC, Elebute M, Bombara MP, Petro BE et al. Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2004; 350: 552-9.
33. Daniels GL, Green CA, Mallinson G, Okubo Y, Hori Y, Kataoka A, Kaihara M. Decay-accelerating factor (CD55) deficiency phenotypes in Japanese. Transfus Med. 1998; 8: 141-7.
34. Matthes T, Tullen E, Poole J, Banks J, Nagy M, Stelling MJ et al. Acquired and transient RBC CD55 deficiency (Inab phenotype) and anti-IFC. Transfusion. 2002; 42: 1448-57.
35. Yamashina M, Ueda E, Kinoshita T, Takami T, Ojima A, Ono H et al. Inherited complete deficiency of 20-kilodalton homologous restriction factor (CD59) as a cause of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1990; 323: 1184-9.
36. Edwards AO, Ritter R, 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science. 2005; 308: 421-4.
37. Souied EH, Leveziel N, Richard F, Dragon-Durey MA, Coscas G, Soubrane G et al. Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol Vis. 2005; 11: 1135-40.