Inhibitors in haemophilia: Pathophysiology

Haemophilia, Supplement

Volumn 10, Issue 4, 2004, Pages 146-151

  Saint Remy, Jean Marie R ^a   Lacroix Desmazes, S ^b   Oldenburg, J ^c  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b CENTRE DE RECHERCHE DES CORDELIERS   (France)

^c Inst Transfus Med I   (Germany)

Author keywords

FVIII; Haemophilia; Inhibitors

Indexed keywords

BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 ANTIBODY; BLOOD CLOTTING FACTOR 8 CONCENTRATE; BLOOD CLOTTING FACTOR 8 INHIBITOR; EPITOPE; IMMUNOGLOBULIN G; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2;

ANTIBODY PRODUCTION; ARTICLE; B LYMPHOCYTE; BLEEDING; CELL SPECIFICITY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HEMOPHILIA; HUMAN; IMMUNE RESPONSE; MAJOR HISTOCOMPATIBILITY COMPLEX; MISSENSE MUTATION; MOLECULAR CLONING; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN PROCESSING; RISK ASSESSMENT; STEREOSPECIFICITY; T LYMPHOCYTE;

EID: 11144219711     PISSN: 13550691     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2004.01009.x     Document Type: Article

References (30)

1. Qian JJ, Borovok M, Bi L et al. Inhibitor antibody development and T cell response to human factor VIII in murine haemophilia A. Thromb Haemost 1999; 81: 240-4.
2. Reding MT, Okita DK, Diethelm-Okita BM et al. Human CD4+ T-cell epitope repertoire on the C2 domain of coagulation factor VIII. J Thromb Haemost 2003; 1: 1777-84.
3. Jacquemin MG, Vantomme V, Buhot C et al. A single mutation Arg2150His regulates the T cell specificity for the factor VIII, C1 domain: a molecular mechanism responsible for the higher incidence of inhibitor in mild/moderate haemophilia A patients with mutations in the C1 domain. Blood 2003, 101: 1351-8.
4. Jacquemin MG, Desqueper BG, Benhida A et al. Mechanism and kinetics of factor VIII inactivation: study with an IgG4 monoclonal antibody derived from a haemophilia A patient with inhibitor. Blood 1998; 92: 496-506.
5. Gilles JG, Grailly S, De Maeyer M et al. In vivo neutralization of C2 domain specific human anti-FVIII by an anti-idiotypic antibody. Blood 2004; 103: 2617-23.
6. Lenting PJ, van Mourik JA, Mertens K et al. The life cycle of coagulation factor VIII in view of its structure and function. Blood 1998; 92: 3983-96.
7. Lenting P, Neels J, Van Den Berg BM et al. The light chain of factor VIII comprises a binding site for low density lipoprotein receptor-related protein. J Biol Chem 1999; 274: 23734-9.
8. Sarafanov A, Ananyeva N, Shima M et al. Cell surface heparan sulfate proteoglycans participate in factor VIII catabolism mediated by low density lipoprotein receptor-related protein. J Biol Chem 2001; 276: 11970-9.
9. Ananyeva NM, Lacroix-Desmazes S, Hauser CA et al. Inhibitors in haemophilia A: mechanisms of inhibition, management and perspectives. Blood Coagul Fibrinolysis 2004; 15: 109-24.
10. Saenko ELM, Shima M, Gilbert GE et al. Slowed release of thrombin-cleaved factor VIII from von Willebrand factor by a monoclonal and a human antibody is a novel mechanism for FVIII inhibition. J Biol Chem 1996; 271: 27424-31.
11. Fulcher CA, de Graaf Mahoney S, Roberts JR et al. Localization of human factor VIII inhibitor epitopes to two polypeptide fragments. Proc Natl Acad Sci USA 1985; 82: 7728-32.
12. Fulcher CA, de Graaf Mahoney S, Zimmerman TS et al. Factor VIII inhibitor IgG subclass and FVIII polypeptide specificity determined by immunoblotting. Blood 1987; 69: 1475-80.
13. Jacquemin M, Benhida A et al. A human antibody directed to the factor VIII, C1 domain inhibits factor VIII cofactor activity and binding to von Willebrand factor. Blood 2000, 95: 156-63.
14. Kazatchkine MD, Sultan Y, Burton-Kee EJ et al. Circulating immune complexes containing anti-FVIII antibodies in multitransfused patients with haemophilia A. Clin Exp Immunol 1980; 39: 315-20.
15. Gilles JG, Arnout J, Vermylen J et al. Anti-factor VIII antibodies of haemophiliac patients are frequently directed towards nonfunctional determinants and do not exhibit isotypic restriction. Blood 1993; 82: 2452-61.
16. Lacroix-Desmazes S, Moreau A, Sooryanarayana et al. Catalytic activity of antibodies against factor VIII in patients with haemophilia A. Nat Med 1999; 5: 1044-7.
17. Lacroix-Desmazes S, Bayry J, Misra N et al. The prevalence of proteolytic antibodies against factor VIII in haemophilia A. N Engl J Med 2002; 346: 662-7.
18. Schwaab R, Brackmann HH, Meyer C et al. Haemophilia A mutation type determines risk of inhibitor formation. Thromb Haemost 1995; 74: 1402-6.
19. Oldenburg J, Picard J, Schwaab R et al. HLA genotype of patients with severe haemophilia A due to intron 22 inversion with and without inhibitors to factor VIII. Thromb Haemost 1997; 77: 238-42.
20. Hay CR, Ollier W, Pepper L et al. HLA class II profile: a weak determinant of factor VIII inhibitor development in severe haemophilia A. LTKHCDO Inhibitor Working Party. Thromb Haemost 1997; 77: 234-7.
21. Kemball-Cook G, Tuddenharn EGD, Wacey AI. The factor VIII structure and mutation resource site: HAMSTeRS, version 4. Nucleic Acid Res 1998, 26,216-9.
22. Oldenburg J, Brackmann HH, Schwaab R. Risk factors for inhibitor development in haemophilia A. Haematologica 2000; 85 (Suppl.): 7-13.
23. Becker J, Schwaab R, Möller-Taube A et al. Characterization of the factor VIII defect in 147 patients with sporadic haemophilia A. Family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 1996; 58: 657-70.
24. Hay CR, Ludlam CA, Colvin BT et al. Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation. Thromb Haemost 1998; 79: 762-6.
25. Jacquemin M, Lavend'homme R, Benhida A et al. A novel cause of mild/moderate haemophilia A: mutations scattered in the factor VIII, C1 domain reduce factor VIII binding to von Willebrand factor. Blood 2000, 96: 958-65.
26. Liu ML, Shen BW, Nakaya S et al. Haemophilic factor VIII, C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure. Blood 2000; 96 979-87.
27. Pratt KP, Shen BW, Takeshima K et al. Structure of the C2 domain of human factor VIII at 1.5 A resolution. Nature 1999; 402: 439-42.
28. Scharrer I, Bray GL, Neutzling O. Incidence of inhibitors in haemophilia A patients - a review of recent studies of recombinant and plasma-derived factor VIII concentrates. Haemophilia 1999; 5: 145-54.
29. Cox Gill J. The role of genetics in inhibitor formation. Thromb Haemost 1999; 82: 500-4.
30. Astermark J, Berntorp E, White GC et al. The Malmö International Brother Study (MIBS): further support for genetic predisposition to inhibitor development in haemophilia patients. Haemophilia 2001; 7: 267-72.