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Volumn 12, Issue 4, 2006, Pages 448-451

Tyr2105Cys mutation in exon 22 of FVIII gene is a risk factor for the development of inhibitors in patients with mild/moderate haemophilia A

Author keywords

Bleeding; Inhibitors; Mild haemophilia A

Indexed keywords

ALLOANTIBODY; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING INHIBITOR;

EID: 33846669469     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2006.01297.x     Document Type: Article
Times cited : (20)

References (26)
  • 1
    • 0026622961 scopus 로고
    • Prevalence of inhibitors in a population of 3435 hemophilia patients in France. French Hemophilia Study Group.
    • Sultan Y. Prevalence of inhibitors in a population of 3435 hemophilia patients in France. French Hemophilia Study Group. Thromb Haemost 1992; 67: 600-2.
    • (1992) Thromb Haemost , vol.67 , pp. 600-602
    • Sultan, Y.1
  • 2
    • 0020662433 scopus 로고
    • Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: report on behalf of the directors of haemophilia centres in the United Kingdom.
    • Rizza CR, Spooner RJ. Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: report on behalf of the directors of haemophilia centres in the United Kingdom. Br Med J (Clin Res Ed) 1983; 286: 929-33.
    • (1983) Br Med J (Clin Res Ed) , vol.286 , pp. 929-933
    • Rizza, C.R.1    Spooner, R.J.2
  • 3
    • 0023856830 scopus 로고
    • The natural history of factor VIII:C inhibitors in patients with hemophilia A: a national cooperative study. II. Observations on the initial development of factor VIII:C inhibitors.
    • McMillan CW, Shapiro SS, Whitehurst D, Hoyer LW, Rao AV, Lazerson J. The natural history of factor VIII:C inhibitors in patients with hemophilia A: a national cooperative study. II. Observations on the initial development of factor VIII:C inhibitors. Blood 1988; 71: 344-8.
    • (1988) Blood , vol.71 , pp. 344-348
    • McMillan, C.W.1    Shapiro, S.S.2    Whitehurst, D.3    Hoyer, L.W.4    Rao, A.V.5    Lazerson, J.6
  • 4
    • 0842333021 scopus 로고    scopus 로고
    • Intensive exposure to factor VIII is a risk factor for inhibitor development in mild hemophilia A
    • Sharathkumar A, Lillicrap D, Blanchette VS et al. Intensive exposure to factor VIII is a risk factor for inhibitor development in mild hemophilia A. J Thromb Haemost 2003; 1: 1228-36.
    • (2003) J Thromb Haemost , vol.1 , pp. 1228-1236
    • Sharathkumar, A.1    Lillicrap, D.2    Blanchette, V.S.3
  • 5
    • 0031958313 scopus 로고    scopus 로고
    • Factor VIII inhibitors in mild and moderate-severity haemophilia A UK Haemophilia Centre Directors Organisation
    • 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.
    • (1998) Thromb Haemost , vol.79 , pp. 762-766
    • Hay, C.R.1    Ludlam, C.A.2    Colvin, B.T.3
  • 6
    • 0031856491 scopus 로고    scopus 로고
    • Factor VIII inhibitors in mild and moderate-severity haemophilia A
    • Hay CR. Factor VIII inhibitors in mild and moderate-severity haemophilia A. Haemophilia 1998; 4: 558-63.
    • (1998) Haemophilia , vol.4 , pp. 558-563
    • Hay, C.R.1
  • 7
    • 0034770548 scopus 로고    scopus 로고
    • Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy
    • Robbins D, Kulkarni R, Gera R, Scott-Emuakpor AB, Bosma K, Penner JA. Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy. Am J Hematol 2001; 68: 184-8.
    • (2001) Am J Hematol , vol.68 , pp. 184-188
    • Robbins, D.1    Kulkarni, R.2    Gera, R.3    Scott-Emuakpor, A.B.4    Bosma, K.5    Penner, J.A.6
  • 8
    • 2342520667 scopus 로고    scopus 로고
    • Effective and safe use of recombinant factor VIIa (NovoSeven) in elderly mild haemophilia A patients with high-titre antibodies against factor VIII
    • Leebeek FW, Kappers-Klunne MC, Jie KS. Effective and safe use of recombinant factor VIIa (NovoSeven) in elderly mild haemophilia A patients with high-titre antibodies against factor VIII. Haemophilia 2004; 10: 250-3.
    • (2004) Haemophilia , vol.10 , pp. 250-253
    • Leebeek, F.W.1    Kappers-Klunne, M.C.2    Jie, K.S.3
  • 9
    • 0036839526 scopus 로고    scopus 로고
    • Rituximab in the treatment of acquired factor VIII inhibitors
    • Wiestner A, Cho HJ, Asch AS et al. Rituximab in the treatment of acquired factor VIII inhibitors. Blood 2002; 100: 3426-8.
    • (2002) Blood , vol.100 , pp. 3426-3428
    • Wiestner, A.1    Cho, H.J.2    Asch, A.S.3
  • 11
    • 0029115540 scopus 로고
    • Inhibitors to factor VIII in a family with mild hemophilia: molecular characterization and response to factor VIII and desmopressin
    • Santagostino E, Gringeri A, Tagliavacca L, Mannucci PM. Inhibitors to factor VIII in a family with mild hemophilia: molecular characterization and response to factor VIII and desmopressin. Thromb Haemost 1995; 74: 619-21.
    • (1995) Thromb Haemost , vol.74 , pp. 619-621
    • Santagostino, E.1    Gringeri, A.2    Tagliavacca, L.3    Mannucci, P.M.4
  • 12
    • 0030610777 scopus 로고    scopus 로고
    • The missense mutation Arg593 Cys is related to antibody formation in a patient with mild hemophilia A
    • Fijnvandraat K, Turenhout EA, van den Brink EN et al. The missense mutation Arg593 -> Cys is related to antibody formation in a patient with mild hemophilia A. Blood 1997; 89: 4371-7.
    • (1997) Blood , vol.89 , pp. 4371-4377
    • Fijnvandraat, K.1    Turenhout, E.A.2    van den Brink, E.N.3
  • 13
    • 0030884459 scopus 로고    scopus 로고
    • Loss of tolerance to exogenous and endogenous factor VIII in a mild hemophilia A patient with an Arg593 to Cys mutation
    • Thompson AR, Murphy ME, Liu M et al. Loss of tolerance to exogenous and endogenous factor VIII in a mild hemophilia A patient with an Arg593 to Cys mutation. Blood 1997; 90: 1902-10.
    • (1997) Blood , vol.90 , pp. 1902-1910
    • Thompson, A.R.1    Murphy, M.E.2    Liu, M.3
  • 14
    • 0030917062 scopus 로고    scopus 로고
    • Factor VIII Ise (R2159C) in a patient with mild hemophilia A, an abnormal factor VIII with retention of function but modification of C2 epitopes
    • Suzuki H, Shima M, Arai M et al. Factor VIII Ise (R2159C) in a patient with mild hemophilia A, an abnormal factor VIII with retention of function but modification of C2 epitopes. Thromb Haemost 1997; 77: 862-7.
    • (1997) Thromb Haemost , vol.77 , pp. 862-867
    • Suzuki, H.1    Shima, M.2    Arai, M.3
  • 15
    • 0032964818 scopus 로고    scopus 로고
    • Longitudinal analysis of factor VIII inhibitors in a previously untreated mild haemophilia A patient with an Arg593-Cys substitution
    • van den Brink EN, Timmermans SM, Turenhout EA et al. Longitudinal analysis of factor VIII inhibitors in a previously untreated mild haemophilia A patient with an Arg593->Cys substitution. Thromb Haemost 1999; 81: 723-6.
    • (1999) Thromb Haemost , vol.81 , pp. 723-726
    • van den Brink, E.N.1    Timmermans, S.M.2    Turenhout, E.A.3
  • 16
    • 0033121017 scopus 로고    scopus 로고
    • Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A
    • Peerlinck K, Jacquemin MG, Arnout J et al. Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. Blood 1999; 93: 2267-73.
    • (1999) Blood , vol.93 , pp. 2267-2273
    • Peerlinck, K.1    Jacquemin, M.G.2    Arnout, J.3
  • 17
    • 0034254727 scopus 로고    scopus 로고
    • A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor
    • Jacquemin M, Lavend'homme R, Benhida A et al. A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. Blood 2000; 96: 958-965.
    • (2000) Blood , vol.96 , pp. 65-958
    • Jacquemin, M.1    Lavend'homme, R.2    Benhida, A.3
  • 18
    • 0034254264 scopus 로고    scopus 로고
    • Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1 5-angstrom human C2-domain crystal structure
    • Liu ML, Shen BW, Nakaya S et al. Hemophilic 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.
    • (2000) Blood , vol.96 , pp. 979-987
    • Liu, M.L.1    Shen, B.W.2    Nakaya, S.3
  • 19
    • 0036227304 scopus 로고    scopus 로고
    • Factor VIII inhibitor in a patient with mild haemophilia A and an Asn 618-Ser mutation responsive to immune tolerance induction and cyclophosphamide
    • Vlot AJ, Wittebol S, Strengers PF et al. Factor VIII inhibitor in a patient with mild haemophilia A and an Asn618-Ser mutation responsive to immune tolerance induction and cyclophosphamide. Br J Haematol 2002; 117: 136-40.
    • (2002) Br J Haematol , vol.117 , pp. 136-140
    • Vlot, A.J.1    Wittebol, S.2    Strengers, P.F.3
  • 20
    • 9144271163 scopus 로고    scopus 로고
    • Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development
    • d'Oiron R, Lavergne JM, Lavend'homme R et al. Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development. Blood 2004; 103: 155-7.
    • (2004) Blood , vol.103 , pp. 155-157
    • d'Oiron, R.1    Lavergne, J.M.2    Lavend'homme, R.3
  • 22
    • 0037441590 scopus 로고    scopus 로고
    • CD4+ T-cell clones specific for wild-type factor VIII: a molecular mechanism responsible for a higher incidence of inhibitor formation in mild/moderate hemophilia A
    • Jacquemin M, Vantomme V, Buhot C et al. CD4+ T-cell clones specific for wild-type factor VIII: a molecular mechanism responsible for a higher incidence of inhibitor formation in mild/moderate hemophilia A. Blood 2003; 101: 1351-8.
    • (2003) Blood , vol.101 , pp. 1351-1358
    • Jacquemin, M.1    Vantomme, V.2    Buhot, C.3
  • 23
    • 0027340359 scopus 로고
    • Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients
    • Naylor JA, Green PM, Rizza CR, Giannelli F. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet 1993; 2: 11-17.
    • (1993) Hum Mol Genet , vol.2 , pp. 11-17
    • Naylor, J.A.1    Green, P.M.2    Rizza, C.R.3    Giannelli, F.4
  • 24
    • 0034467035 scopus 로고    scopus 로고
    • Factor VIII inhibitors in two families with mild haemophilia A: structural analysis of the mutations
    • Knobe KE, Villoutreix BO, Tengborn LI, Petrini P, Ljung RC. Factor VIII inhibitors in two families with mild haemophilia A: structural analysis of the mutations. Haemostasis 2000; 30: 268-79.
    • (2000) Haemostasis , vol.30 , pp. 268-279
    • Knobe, K.E.1    Villoutreix, B.O.2    Tengborn, L.I.3    Petrini, P.4    Ljung, R.C.5
  • 25
    • 0035044695 scopus 로고    scopus 로고
    • Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data
    • Ivaskevicius V, Jurgutis R, Rost S et al. Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. Br J Haematol 2001; 112: 1062-1070.
    • (2001) Br J Haematol , vol.112 , pp. 1062-1070
    • Ivaskevicius, V.1    Jurgutis, R.2    Rost, S.3
  • 26
    • 0036186809 scopus 로고    scopus 로고
    • The identification and classification of 41 novel mutations in the factor VIII gene (F8C)
    • Cutler JA, Mitchell MJ, Smith MP, Savidge GF. The identification and classification of 41 novel mutations in the factor VIII gene (F8C). Hum Mutat 2002; 19: 274-8.
    • (2002) Hum Mutat , vol.19 , pp. 274-278
    • Cutler, J.A.1    Mitchell, M.J.2    Smith, M.P.3    Savidge, G.F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.