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Volumn , Issue , 2010, Pages 355-361

Factor XI Deficiency

Author keywords

Biochemical features and function of factor XI; Bleeding manifestations in patients with severe deficiency; Factor XI (FXI) deficiency, described in 1953 as new types of hemophilia; Factor XI deficiency; FXI effect, promoting coagulation and inhibiting fibrinolysis; Heterozygotes and bleeding manifestations; Highest prevalence of FXI deficiency observed in Ashkenazi Jews; Inheritance and functional defect; Negatively charged surfaces triggering activation of factor XII (FXII); Surgery in patients developing inhibitor to FXI, presenting challenges

Indexed keywords


EID: 80053416103     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781444318555.ch53     Document Type: Chapter
Times cited : (6)

References (41)
  • 1
    • 77049137927 scopus 로고
    • New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor
    • Rosenthal R, Dreskin O, Rosenthal N. New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. Proc Soc Exp Biol Med 1953; 82: 171-4.
    • (1953) Proc Soc Exp Biol Med , vol.82 , pp. 171-174
    • Rosenthal, R.1    Dreskin, O.2    Rosenthal, N.3
  • 2
    • 0000126344 scopus 로고
    • The role of inheritance of PTA deficiency: evidence for the existence of major PTA deficiency and minor PTA deficiency
    • Rapaport SI, Proctor RR, Patch NJ, Yettra M. The role of inheritance of PTA deficiency: evidence for the existence of major PTA deficiency and minor PTA deficiency. Blood 1961; 18: 149-65.
    • (1961) Blood , vol.18 , pp. 149-165
    • Rapaport, S.I.1    Proctor, R.R.2    Patch, N.J.3    Yettra, M.4
  • 3
    • 0018139784 scopus 로고
    • High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews
    • Seligsohn U. High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews. Blood 1978; 516: 1223-8.
    • (1978) Blood , vol.516 , pp. 1223-1228
    • Seligsohn, U.1
  • 4
    • 0025874052 scopus 로고
    • Factor XI activation in a revised model of blood coagulation
    • Gailani D, Broze GJ. Factor XI activation in a revised model of blood coagulation. Science 1991; 253: 909-12.
    • (1991) Science , vol.253 , pp. 909-912
    • Gailani, D.1    Broze, G.J.2
  • 6
    • 42249105219 scopus 로고    scopus 로고
    • A renaissance for the contact system in blood coagulation?
    • Blat Y, Seiffert D. A renaissance for the contact system in blood coagulation? Thromb Hemost 2008; 99: 457-60.
    • (2008) Thromb Hemost , vol.99 , pp. 457-460
    • Blat, Y.1    Seiffert, D.2
  • 7
    • 0035874505 scopus 로고    scopus 로고
    • Model for a factor IX activation complex on blood platelets: dimeric conformation of factor XIa is essential
    • Gailani D, Ho D, Sun MF, et al. Model for a factor IX activation complex on blood platelets: dimeric conformation of factor XIa is essential. Blood 2001; 97: 3117-22.
    • (2001) Blood , vol.97 , pp. 3117-3122
    • Gailani, D.1    Ho, D.2    Sun, M.F.3
  • 8
    • 33744927154 scopus 로고    scopus 로고
    • Crystal structure of the efactor XI zymogen reveals a pathway for transactivation
    • Papagrigoriou E, McEwan PA, Walsh PN, Emsley J. Crystal structure of the efactor XI zymogen reveals a pathway for transactivation. Nature Struct Mol Biol 2006; 13: 557-8.
    • (2006) Nature Struct Mol Biol , vol.13 , pp. 557-558
    • Papagrigoriou, E.1    McEwan, P.A.2    Walsh, P.N.3    Emsley, J.4
  • 9
    • 0024787112 scopus 로고
    • Factor XI gene ( F11 ) is located on the distal end of the long arm of human chromosome 4
    • Kato A, Asakai R, Davie EW, Aoki N. Factor XI gene ( F11 ) is located on the distal end of the long arm of human chromosome 4. Cytogenet Cell Genet 1989; 52: 77-8.
    • (1989) Cytogenet Cell Genet , vol.52 , pp. 77-78
    • Kato, A.1    Asakai, R.2    Davie, E.W.3    Aoki, N.4
  • 10
    • 0037127251 scopus 로고    scopus 로고
    • Factor XI binding to the platelet glycoprotein Ib-IX-V complex promotes factor XI activation by thrombin
    • Baglia FA, Badellino KO, Li CQ, et al. Factor XI binding to the platelet glycoprotein Ib-IX-V complex promotes factor XI activation by thrombin. J Biol Chem 2002; 277: 1662-8.
    • (2002) J Biol Chem , vol.277 , pp. 1662-1668
    • Baglia, F.A.1    Badellino, K.O.2    Li, C.Q.3
  • 11
    • 0035279930 scopus 로고    scopus 로고
    • Thrombin-activatable fibrinolysis inhibitor (TAFI, plasma procarboxypeptidase B, procarboxypeptidase R, procarboxypeptidase U)
    • Bouma BN, Marx PF, Mosnier LO, Meijers JC. Thrombin-activatable fibrinolysis inhibitor (TAFI, plasma procarboxypeptidase B, procarboxypeptidase R, procarboxypeptidase U). Thromb Res 2001; 101: 329-54.
    • (2001) Thromb Res , vol.101 , pp. 329-354
    • Bouma, B.N.1    Marx, P.F.2    Mosnier, L.O.3    Meijers, J.C.4
  • 13
    • 0022252887 scopus 로고
    • Failure to detect variant (CRM+) plasma thromboplastin antecedent (factor XI) molecules in hereditary plasma thromboplastin antecedent defi-ciency: a study of 125 patients in several ethnic backgrounds
    • Saito H, Ratnoff OD, Bouma BN, Seligshon U. Failure to detect variant (CRM+) plasma thromboplastin antecedent (factor XI) molecules in hereditary plasma thromboplastin antecedent defi-ciency: a study of 125 patients in several ethnic backgrounds. J Lab Clin Med 1985; 106: 718-22.
    • (1985) J Lab Clin Med , vol.106 , pp. 718-722
    • Saito, H.1    Ratnoff, O.D.2    Bouma, B.N.3    Seligshon, U.4
  • 14
    • 13244298150 scopus 로고    scopus 로고
    • Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI - Glu555): a cross-reactive material positive variant defective in factor XI activation
    • Zivelin A, Ogawa T, Bulvik S, et al. Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI - Glu555): a cross-reactive material positive variant defective in factor XI activation. J Thromb Haemost 2004; 2: 1782-9.
    • (2004) J Thromb Haemost , vol.2 , pp. 1782-1789
    • Zivelin, A.1    Ogawa, T.2    Bulvik, S.3
  • 15
    • 0012992989 scopus 로고
    • Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations
    • Asakai R, Chung DW, Ratnoff OD, Davie EW. Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci USA 1989; 86: 7667-71.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 7667-7671
    • Asakai, R.1    Chung, D.W.2    Ratnoff, O.D.3    Davie, E.W.4
  • 16
    • 0025908729 scopus 로고
    • A molecular genetic study of factor XI deficiency
    • Hancock JF, Wieland K, Pugh RE, et al. A molecular genetic study of factor XI deficiency. Blood 1991; 77: 1942-8.
    • (1991) Blood , vol.77 , pp. 1942-1948
    • Hancock, J.F.1    Wieland, K.2    Pugh, R.E.3
  • 17
    • 0026692143 scopus 로고
    • Apple four in human blood coagulation factor XI mediates dimer formation
    • Meijers JC, Mulvihill ER, Davie EW, Chung DW. Apple four in human blood coagulation factor XI mediates dimer formation. Biochemistry 1992; 31: 4680-4.
    • (1992) Biochemistry , vol.31 , pp. 4680-4684
    • Meijers, J.C.1    Mulvihill, E.R.2    Davie, E.W.3    Chung, D.W.4
  • 18
  • 19
    • 0036530032 scopus 로고    scopus 로고
    • Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene
    • Zivelin A, Bauduer F, Ducout L, et al. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood 2002; 99: 2448-54.
    • (2002) Blood , vol.99 , pp. 2448-2454
    • Zivelin, A.1    Bauduer, F.2    Ducout, L.3
  • 20
    • 0030755267 scopus 로고    scopus 로고
    • The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin
    • Peretz H, Mulai A, Usher S, et al. The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin. Blood 1997; 90: 2654-9.
    • (1997) Blood , vol.90 , pp. 2654-2659
    • Peretz, H.1    Mulai, A.2    Usher, S.3
  • 21
    • 0028899613 scopus 로고
    • One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews
    • Shpilberg O, Peretz H, Zivelin A, et al. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. Blood 1995; 85: 429-32.
    • (1995) Blood , vol.85 , pp. 429-432
    • Shpilberg, O.1    Peretz, H.2    Zivelin, A.3
  • 22
    • 0033358085 scopus 로고    scopus 로고
    • Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews
    • Goldstein DB, Reich DE, Bradman N, et al. Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews. Am J Hum Genet 1999; 64: 1071-5.
    • (1999) Am J Hum Genet , vol.64 , pp. 1071-1075
    • Goldstein, D.B.1    Reich, D.E.2    Bradman, N.3
  • 23
    • 4444317749 scopus 로고    scopus 로고
    • A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency
    • Bolton-Maggs PHB, Peretz H, Butler R, et al. A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. J Thromb Haemost 2004; 2: 918-24.
    • (2004) J Thromb Haemost , vol.2 , pp. 918-924
    • Bolton-Maggs, P.H.B.1    Peretz, H.2    Butler, R.3
  • 24
    • 33747159859 scopus 로고    scopus 로고
    • Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy
    • Salomon O, Steinberg DM, Seligsohn U. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy. Haemophilia 2006; 12: 490-3.
    • (2006) Haemophilia , vol.12 , pp. 490-493
    • Salomon, O.1    Steinberg, D.M.2    Seligsohn, U.3
  • 25
    • 0028869947 scopus 로고
    • Definition of the bleeding tendency in factor XI-deficient kindreds - a clinical and laboratory study
    • Bolton-Maggs PH, Patterson DA, Wensley RT, Tuddenham EG. Definition of the bleeding tendency in factor XI-deficient kindreds - a clinical and laboratory study. Thromb Haemost 1995; 73: 194-202.
    • (1995) Thromb Haemost , vol.73 , pp. 194-202
    • Bolton-Maggs, P.H.1    Patterson, D.A.2    Wensley, R.T.3    Tuddenham, E.G.4
  • 26
    • 12544255307 scopus 로고    scopus 로고
    • Plasma replacement therapy during labor is not mandatory for women with sever factor XI deficiency
    • Salomon O, Steinberg DM, Tamarin I, et al. Plasma replacement therapy during labor is not mandatory for women with sever factor XI deficiency. Blood Coagul Fibrinolysis 2005; 16: 37-41.
    • (2005) Blood Coagul Fibrinolysis , vol.16 , pp. 37-41
    • Salomon, O.1    Steinberg, D.M.2    Tamarin, I.3
  • 27
    • 0018105016 scopus 로고
    • Factor XI deficiency: detection and management during urological surgery
    • Sidi A, Seligsohn U, Jonas P, Many M. Factor XI deficiency: detection and management during urological surgery. J Urol 1978; 119: 528-30.
    • (1978) J Urol , vol.119 , pp. 528-530
    • Sidi, A.1    Seligsohn, U.2    Jonas, P.3    Many, M.4
  • 28
    • 0036096074 scopus 로고    scopus 로고
    • Factor XI deficiency in Iranians: its clinical manifestations in comparison with those of classic hemophilia
    • Peyvandi F, Lak M, Mannucci PM. Factor XI deficiency in Iranians: its clinical manifestations in comparison with those of classic hemophilia. Haematologica 2002; 87: 512-14.
    • (2002) Haematologica , vol.87 , pp. 512-514
    • Peyvandi, F.1    Lak, M.2    Mannucci, P.M.3
  • 30
    • 0031454909 scopus 로고    scopus 로고
    • Bleeding predictors in factor-XI-deficient patients
    • Brenner B, Laor A, Lupo H, et al. Bleeding predictors in factor-XI-deficient patients. Blood Coagul Fibrinol 1997; 8: 511-15.
    • (1997) Blood Coagul Fibrinol , vol.8 , pp. 511-515
    • Brenner, B.1    Laor, A.2    Lupo, H.3
  • 31
    • 0142197166 scopus 로고    scopus 로고
    • Inherited factor XI deficiency confers no protection against acute myocardial infarction
    • Salomon O, Steinberg DM, Dardik R, et al. Inherited factor XI deficiency confers no protection against acute myocardial infarction. J Thromb Haemost 2003; 1: 658-61.
    • (2003) J Thromb Haemost , vol.1 , pp. 658-661
    • Salomon, O.1    Steinberg, D.M.2    Dardik, R.3
  • 32
    • 43249088304 scopus 로고    scopus 로고
    • Reduced incidence of ischemic stroke in patients with severe factor XI defi-ciency
    • Salomon O, Steinberg DM, Koren-Morag N, et al. Reduced incidence of ischemic stroke in patients with severe factor XI defi-ciency. Blood 2008; 111: 4113-17.
    • (2008) Blood , vol.111 , pp. 4113-4117
    • Salomon, O.1    Steinberg, D.M.2    Koren-Morag, N.3
  • 33
    • 0016854163 scopus 로고
    • Pulmonary embolism with factor XI deficiency
    • Brodsky JB, Burgess GE. Pulmonary embolism with factor XI deficiency. JAMA 1975; 234: 1156-7.
    • (1975) JAMA , vol.234 , pp. 1156-1157
    • Brodsky, J.B.1    Burgess, G.E.2
  • 34
    • 0034099043 scopus 로고    scopus 로고
    • High levels of coagulation factor XI as a risk factor for venous thrombosis
    • Meijers JC, Tekelenburg WL, Bouma BN, et al. High levels of coagulation factor XI as a risk factor for venous thrombosis. N Engl J Med 2000; 342: 696-701.
    • (2000) N Engl J Med , vol.342 , pp. 696-701
    • Meijers, J.C.1    Tekelenburg, W.L.2    Bouma, B.N.3
  • 35
    • 0000085001 scopus 로고    scopus 로고
    • Factor XI the contact system
    • Scriver C.R. Beaudet A.L. Sly W.S. Valle D.,New York: McGraw-Hill Publishing
    • Gailani D, Broze GJ. Factor XI and the contact system. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.) The Metabolic and Molecular Basis of Inherited Diseases, 8th edn. New York: McGraw-Hill Publishing, 2000: 4433-4453.
    • (2000) The Metabolic and Molecular Basis of Inherited Diseases, 8th edn , pp. 4433-4453
    • Gailani, D.1    Broze, G.J.2
  • 36
    • 0017031539 scopus 로고
    • Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher ' s disease
    • Seligsohn U, Zitman D, Many A, Klibansky C. Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher ' s disease. Isr J Med Sci 1976; 12: 1448-52.
    • (1976) Isr J Med Sci , vol.12 , pp. 1448-1452
    • Seligsohn, U.1    Zitman, D.2    Many, A.3    Klibansky, C.4
  • 37
    • 10744228323 scopus 로고    scopus 로고
    • Prevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency
    • Salomon O, Ziveiln A, Livnat T, et al. Prevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency. Blood 2003; 101: 4783-88.
    • (2003) Blood , vol.101 , pp. 4783-4788
    • Salomon, O.1    Ziveiln, A.2    Livnat, T.3
  • 38
    • 0019404547 scopus 로고
    • Definition of the population at risk of bleeding due to factor XI deficiency in Ashkenazic Jews and the value of activated partial thromboplastin time in its detection
    • Seligsohn U, Modan M. Definition of the population at risk of bleeding due to factor XI deficiency in Ashkenazic Jews and the value of activated partial thromboplastin time in its detection. Isr J Med Sci 1981; 17: 413-15.
    • (1981) Isr J Med Sci , vol.17 , pp. 413-415
    • Seligsohn, U.1    Modan, M.2
  • 39
    • 0033941387 scopus 로고    scopus 로고
    • Factor XI deficiency and its management
    • Bolton-Maggs PHB. Factor XI deficiency and its management. Haemophilia 2000; 6: 100-9.
    • (2000) Haemophilia , vol.6 , pp. 100-109
    • Bolton-Maggs, P.H.B.1
  • 40
    • 0026730803 scopus 로고
    • Dental surgery in patients with severe factor XI deficiency without plasma replacement
    • Berliner S, Horowitz I, Martinowitz U, et al. Dental surgery in patients with severe factor XI deficiency without plasma replacement. Blood Coagul Fibrinol 1992; 3: 465-8.
    • (1992) Blood Coagul Fibrinol , vol.3 , pp. 465-468
    • Berliner, S.1    Horowitz, I.2    Martinowitz, U.3
  • 41
    • 70449381348 scopus 로고    scopus 로고
    • Recombinant activated factor VII and tranexamic acid are hemostatically effective during major surgery in factor XI-deficient patients with inhibitor antibodies
    • Livnat T, Tamarin I, Mor Y, et al. Recombinant activated factor VII and tranexamic acid are hemostatically effective during major surgery in factor XI-deficient patients with inhibitor antibodies. Thromb Haemost 2009; 102: 487-92.
    • (2009) Thromb Haemost , vol.102 , pp. 487-492
    • Livnat, T.1    Tamarin, I.2    Mor, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.