Factor H autoantibodies and deletion of Complement Factor H-Related protein-1 in rheumatic diseases in comparison to atypical hemolytic uremic syndrome

Arthritis Research and Therapy

Volumn 14, Issue 4, 2012, Pages

  Foltyn Zadura, Anna ^a   Zipfel, Peter F ^b   Bokarewa, Maria I ^c   Sturfelt, Gunnar ^d   Jönsen, Andreas ^d   Nilsson, Sara C ^a   Hillarp, Andreas ^a   Saxne, Tore ^d   Trouw, Leendert A ^e   Blom, Anna M ^a  

^a LUND UNIVERSITY   (Sweden)

^b HANS KNÖLL INSTITUTE   (Germany)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

^d LUND UNIVERSITY   (Sweden)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C4B BINDING PROTEIN; COMPLEMENT FACTOR H; EPITOPE; FIBRINOGEN; LUPUS ANTICOAGULANT; AUTOANTIBODY; BIOLOGICAL MARKER; CFHR1 PROTEIN, HUMAN; COMPLEMENT FACTOR H, HUMAN; COMPLEMENT FACTOR I;

ADOLESCENT; ADULT; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; COHORT ANALYSIS; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE DELETION; HEMOLYTIC UREMIC SYNDROME; HUMAN; MAJOR CLINICAL STUDY; RHEUMATOID ARTHRITIS; SYSTEMIC LUPUS ERYTHEMATOSUS; THROMBOSIS; WESTERN BLOTTING; ATYPICAL HEMOLYTIC UREMIC SYNDROME; BLOOD; CLINICAL TRIAL; COMPARATIVE STUDY; FEMALE; GENETICS; HEK293 CELL LINE; MALE; METABOLISM; MIDDLE AGED; MULTICENTER STUDY; RHEUMATIC DISEASES; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ATYPICAL HEMOLYTIC UREMIC SYNDROME; AUTOANTIBODIES; BIOLOGICAL MARKERS; COHORT STUDIES; COMPLEMENT C3B INACTIVATOR PROTEINS; COMPLEMENT FACTOR H; FEMALE; GENE DELETION; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; RHEUMATIC DISEASES; YOUNG ADULT;

EID: 84864925248     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar4016     Document Type: Article

References (41)

1. Walport MJ. Complement. First of two parts. N Engl J Med 2001, 344:1058-1066. 10.1056/NEJM200104053441406, 11287977.
2. Trouw LA, Blom AM, Gasque P. Role of complement and complement regulators in the removal of apoptotic cells. Mol Immunol 2008, 45:1199-1207. 10.1016/j.molimm.2007.09.008, 17961651.
3. Ricklin D, Hajishengallis G, Yang K, Lambris JD. Complement: a key system for immune surveillance and homeostasis. Nat Immunol 2010, 11:785-797. 10.1038/ni.1923, 2924908, 20720586.
4. Blom AM, Villoutreix BO, Dahlbäck B. Complement inhibitor C4b-binding protein - friend or foe in the innate immune system?. Mol Immunol 2004, 40:1333-1346. 10.1016/j.molimm.2003.12.002, 15072852.
5. Ferreira VP, Pangburn MK, Cortes C. Complement control protein factor H: the good, the bad, and the inadequate. Mol Immunol 2010, 47:2187-2197. 10.1016/j.molimm.2010.05.007, 2921957, 20580090.
6. Gigli I, Fujita T, Nussenzweig V. Modulation of the classical pathway C3 convertase by plasma protein C4b binding and C3b inactivator. Proc Natl Acad Sci USA 1979, 76:6596-6600. 10.1073/pnas.76.12.6596, 411913, 293746.
7. Nilsson SC, Sim RB, Lea SM, Fremeaux-Bacchi V, Blom AM. Complement factor I in health and disease. Mol Immunol 2011, 48:1611-1620. 10.1016/j.molimm.2011.04.004, 21529951.
8. Sjöberg A, Trouw LA, Blom AM. Complement activation and inhibition - a delicate balance. Trends Immunol 2008, 30:83-90.
9. Okroj M, Heinegård D, Holmdahl R, Blom AM. Rheumatoid arthritis and the complement system. Ann Med 2007, 2:1-14.
10. Petry F. Molecular basis of hereditary C1q deficiency. Immunobiology 1998, 199:286-294. 10.1016/S0171-2985(98)80033-8, 9777412.
11. Sturfelt G, Sjoholm AG. Complement components, complement activation, and acute phase response in systemic lupus erythematosus. Int Arch Allergy Appl Immunol 1984, 75:75-83. 10.1159/000233593, 6086533.
12. Walport MJ. Complement and systemic lupus erythematosus. Arthritis Res 2002, 4(Suppl 3):S279-293. 10.1186/ar586, 3240161, 12110148.
13. Cavazzana I, Manuela N, Irene C, Barbara A, Sara S, Orietta BM, Angela T, Francesco T, Luigi MP. Complement activation in anti-phospholipid syndrome: a clue for an inflammatory process?. J Autoimmun 2007, 28:160-164. 10.1016/j.jaut.2007.02.013, 17419007.
14. Roumenina LT, Loirat C, Dragon-Durey MA, Halbwachs-Mecarelli L, Sautes-Fridman C, Fremeaux-Bacchi V. Alternative complement pathway assessment in patients with atypical HUS. J Immunol Methods 2011, 365:8-26. 10.1016/j.jim.2010.12.020, 21215749.
15. Trouw LA, Roos A, Daha MR. Autoantibodies to complement components. Mol Immunol 2001, 38:199-206. 10.1016/S0161-5890(01)00043-8, 11532281.
16. Dragon-Durey MA, Loirat C, Cloarec S, Macher MA, Blouin J, Nivet H, Weiss L, Fridman WH, Fremeaux-Bacchi V. Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol 2005, 16:555-563. 10.1681/ASN.2004050380, 15590760.
17. Jozsi M, Strobel S, Dahse HM, Liu WS, Hoyer PF, Oppermann M, Skerka C, Zipfel PF. Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome. Blood 2007, 110:1516-1518. 10.1182/blood-2007-02-071472, 17495132.
18. Jozsi M, Licht C, Strobel S, Zipfel SL, Richter H, Heinen S, Zipfel PF, Skerka C. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood 2008, 111:1512-1514.
19. Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Staniforth SJ, Holmes LV, Ward R, Morgan L, Goodship TH, Marchbank KJ. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood 2010, 115:379-387. 10.1182/blood-2009-05-221549, 2829859, 19861685.
20. Strobel S, Hoyer PF, Mache CJ, Sulyok E, Liu WS, Richter H, Oppermann M, Zipfel PF, Jozsi M. Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome. Nephrol Dial Transplant 2010, 25:136-144. 10.1093/ndt/gfp388, 19666655.
21. Zipfel PF, Skerka C. Complement factor H and related proteins: an expanding family of complement-regulatory proteins?. Immunol Today 1994, 15:121-126. 10.1016/0167-5699(94)90155-4, 8172644.
22. Zipfel PF, Edey M, Heinen S, Jozsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet 2007, 3:e41. 10.1371/journal.pgen.0030041, 1828695, 17367211.
23. Zipfel PF, Mache C, Muller D, Licht C, Wigger M, Skerka C. DEAP-HUS: deficiency of CFHR plasma proteins and autoantibody-positive form of hemolytic uremic syndrome. Pediatr Nephrol 2010, 25:2009-2019. 10.1007/s00467-010-1446-9, 20157737.
24. Arnett FC, Edworthy SM, Bloch DA, McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS, et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988, 31:315-324. 10.1002/art.1780310302, 3358796.
25. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, Schaller JG, Talal N, Winchester RJ. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982, 25:1271-1277. 10.1002/art.1780251101, 7138600.
26. Bombardier C, Gladman DD, Urowitz MB, Caron D, Chang CH. Derivation of the SLEDAI. A disease activity index for lupus patients. The Committee on Prognosis Studies in SLE. Arthritis Rheum 1992, 35:630-640. 10.1002/art.1780350606, 1599520.
27. Thiagarajan P, Pengo V, Shapiro SS. The use of the dilute Russell viper venom time for the diagnosis of lupus anticoagulants. Blood 1986, 68:869-874.
28. Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, Derksen RH, PG DEG, Koike T, Meroni PL, Reber G, Shoenfeld Y, Tincani A, Vlachoyiannopoulos PG, Krilis SA. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 2006, 4:295-306. 10.1111/j.1538-7836.2006.01753.x, 16420554.
29. Blom AM, Kask L, Dahlbäck B. CCP1-4 of the C4b-binding protein a-chain are required for Factor I mediated cleavage of C3b. Mol Immunol 2003, 39:547-556. 10.1016/S0161-5890(02)00213-4, 12431388.
30. Blom AM, Kask L, Dahlbäck B. Structural requirements for the complement regulatory activities of C4BP. J Biol Chem 2001, 276:27136-27144. 10.1074/jbc.M102445200, 11369776.
31. Nilsson SC, Trouw LA, Renault N, Miteva MA, Genel F, Zelazko M, Marquart H, Muller K, Sjoholm AG, Truedsson L, Villoutreix BO, Blom AM. Genetic, molecular and functional analyses of complement factor I deficiency. Eur J Immunol 2009, 39:310-323. 10.1002/eji.200838702, 19065647.
32. Dragon-Durey MA, Sethi SK, Bagga A, Blanc C, Blouin J, Ranchin B, Andre JL, Takagi N, Cheong HI, Hari P, Le Quintrec M, Niaudet P, Loirat C, Fridman WH, Fremeaux-Bacchi V. Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome. JASN 2010, 21:2180-2187. 10.1681/ASN.2010030315, 3014031, 21051740.
33. Nilsson SC, Karpman D, Vaziri-Sani F, Kristoffersson AC, Salomon R, Provot F, Fremeaux-Bacchi V, Trouw LA, Blom AM. A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation. Mol Immunol 2007, 44:1845-1854. 10.1016/j.molimm.2006.10.018, 17118454.
34. Dragon-Durey MA, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman WH, Fremeaux-Bacchi V. The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. J Med Genet 2009, 46:447-450. 10.1136/jmg.2008.064766, 19435718.
35. Sjoberg A, Önnerfjord P, Morgelin M, Heinegård D, Blom AM. The extracellular matrix and inflammation: fibromodulin activates the classical pathway of complement by directly binding C1q. J Biol Chem 2005, 280:32301-32308. 10.1074/jbc.M504828200, 16046396.
36. Happonen KE, Saxne T, Aspberg A, Morgelin M, Heinegard D, Blom AM. Regulation of complement by COMP allows for a novel molecular diagnostic principle in rheumatoid arthritis. Arthritis Rheum 2010, 62:3574-3583. 10.1002/art.27720, 20737467.
37. Sjöberg A, Manderson GA, Mörgelin M, Day AJ, Heinegård D, Blom AM. Short leucine-rich glycoproteins of the extracellular matrix display diverse patterns of complement interaction and activation. Mol Immunol 2008, 46:830-839. 2760063, 18962898.
38. Zhao J, Wu H, Khosravi M, Cui H, Qian X, Kelly JA, Kaufman KM, Langefeld CD, Williams AH, Comeau ME, Ziegler JT, Marion MC, Adler A, Glenn SB, Alarcon-Riquelme ME, Pons-Estel BA, Harley JB, Bae SC, Bang SY, Cho SK, Jacob CO, Vyse TJ, Niewold TB, Gaffney PM, Moser KL, Kimberly RP, Edberg JC, Brown EE, Alarcon GS, Petri MA, et al. Association of genetic variants in complement factor h and factor h-related genes with systemic lupus erythematosus susceptibility. PLoS Genet 2011, 7:e1002079. 10.1371/journal.pgen.1002079, 3102741, 21637784.
39. Jonsen A, Nilsson SC, Ahlqvist E, Svenungsson E, Gunnarsson I, Eriksson KG, Bengtsson A, Zickert A, Eloranta ML, Truedsson L, Ronnblom L, Nordmark G, Sturfelt G, Blom AM. Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus. Arthritis Res Ther 2011, 13:R206. 10.1186/ar3539, 3334659, 22171659.
40. Trouw LA, Bohringer S, Daha NA, Stahl EA, Raychaudhuri S, Kurreeman FA, Stoeken-Rijsbergen G, Houwing-Duistermaat JJ, Huizinga TW, Toes RE. The major risk alleles of age-related macular degeneration (AMD) in CFH do not play a major role in rheumatoid arthritis (RA). Clin Exp Immunol 2011, 166:333-337. 10.1111/j.1365-2249.2011.04482.x, 22059990.
41. Abarrategui-Garrido C, Martinez-Barricarte R, Lopez-Trascasa M, de Cordoba SR, Sanchez-Corral P. Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood 2009, 114:4261-4271. 10.1182/blood-2009-05-223834, 19745068.