메뉴 건너뛰기




Volumn 14, Issue 6, 2008, Pages 1201-1208

Combined FV and FVIII deficiency

Author keywords

Combined FV + FVIII deficiency; F5F8D; LMAN1; MCFD2

Indexed keywords

BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; DESMOPRESSIN; FRESH FROZEN PLASMA; GLYCOSYLATED PROTEIN; IMMUNOGLOBULIN; PROTEIN LMAN1; RECOMBINANT BLOOD CLOTTING FACTOR 8; UNCLASSIFIED DRUG;

EID: 55949096229     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01845.x     Document Type: Article
Times cited : (55)

References (43)
  • 1
    • 0017746511 scopus 로고
    • Immunological studies in combined factor V and factor VIII deficiency
    • Giddings JC, Seligsohn U, Bloom AL. Immunological studies in combined factor V and factor VIII deficiency. Br J Haematol 1977; 37: 257-64.
    • (1977) Br J Haematol , vol.37 , pp. 257-264
    • Giddings, J.C.1    Seligsohn, U.2    Bloom, A.L.3
  • 2
    • 19444368098 scopus 로고
    • Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers
    • Oeri J, Matter M, Isenschmid H, Hauser F, Koller F. Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers. Bibl Paediatr 1954; 58: 575-88.
    • (1954) Bibl Paediatr , vol.58 , pp. 575-588
    • Oeri, J.1    Matter, M.2    Isenschmid, H.3    Hauser, F.4    Koller, F.5
  • 3
    • 0014679705 scopus 로고
    • Congenital combined deficiency of factor V and factor 8. A case report and the effect of transfusion of normal plasma and hemophilic blood
    • Saito H, Shioya M, Koie K, Kamiya T, Katsumi O. Congenital combined deficiency of factor V and factor 8. A case report and the effect of transfusion of normal plasma and hemophilic blood. Thromb Diath Haemorrh 1969; 22: 316-25.
    • (1969) Thromb Diath Haemorrh , vol.22 , pp. 316-325
    • Saito, H.1    Shioya, M.2    Koie, K.3    Kamiya, T.4    Katsumi, O.5
  • 4
    • 0026755597 scopus 로고
    • Structure of the gene for human coagulation factor V
    • Cripe LD, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry 1992; 31: 3777-85.
    • (1992) Biochemistry , vol.31 , pp. 3777-3785
    • Cripe, L.D.1    Moore, K.D.2    Kane, W.H.3
  • 5
    • 0021750055 scopus 로고
    • Characterization of the human factor VIII gene
    • Gitschier J, Wood WI, Goralka TM et al. Characterization of the human factor VIII gene. Nature 1984; 312: 326-30.
    • (1984) Nature , vol.312 , pp. 326-330
    • Gitschier, J.1    Wood, W.I.2    Goralka, T.M.3
  • 6
    • 0031028363 scopus 로고    scopus 로고
    • Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping
    • Nichols WC, Seligsohn U, Zivelin A et al. Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. J Clin Invest 1997; 99: 596-601.
    • (1997) J Clin Invest , vol.99 , pp. 596-601
    • Nichols, W.C.1    Seligsohn, U.2    Zivelin, A.3
  • 7
    • 0032478548 scopus 로고    scopus 로고
    • Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII
    • Nichols WC, Seligsohn U, Zivelin A et al. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 1998; 93: 61-70.
    • (1998) Cell , vol.93 , pp. 61-70
    • Nichols, W.C.1    Seligsohn, U.2    Zivelin, A.3
  • 8
    • 0038278822 scopus 로고    scopus 로고
    • Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex
    • Zhang B, Cunningham MA, Nichols WC et al. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet 2003; 34: 220-5.
    • (2003) Nat Genet , vol.34 , pp. 220-225
    • Zhang, B.1    Cunningham, M.A.2    Nichols, W.C.3
  • 9
    • 21844438479 scopus 로고    scopus 로고
    • LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway
    • Zhang B, Kaufman RJ, Ginsburg D. LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. J Biol Chem 2005; 280: 25881-6.
    • (2005) J Biol Chem , vol.280 , pp. 25881-25886
    • Zhang, B.1    Kaufman, R.J.2    Ginsburg, D.3
  • 10
    • 33344476901 scopus 로고    scopus 로고
    • Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2
    • Zhang B, McGee B, Yamaoka JS et al. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 2006; 107: 1903-7.
    • (2006) Blood , vol.107 , pp. 1903-1907
    • Zhang, B.1    McGee, B.2    Yamaoka, J.S.3
  • 11
    • 4444269047 scopus 로고    scopus 로고
    • Recessively inherited coagulation disorders
    • Mannucci PM, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-52.
    • (2004) Blood , vol.104 , pp. 1243-1252
    • Mannucci, P.M.1    Peyvandi, F.2
  • 12
    • 0020322169 scopus 로고
    • Combined factor V and factor VIII deficiency among non-Ashkenazi Jews
    • Seligsohn U, Zivelin A, Zwang E. Combined factor V and factor VIII deficiency among non-Ashkenazi Jews. N Engl J Med 1982; 307: 1191-5.
    • (1982) N Engl J Med , vol.307 , pp. 1191-1195
    • Seligsohn, U.1    Zivelin, A.2    Zwang, E.3
  • 13
    • 2042440439 scopus 로고    scopus 로고
    • A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia
    • Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U. A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia. Blood Coagul Fibrinolysis 2004; 15: 99-102.
    • (2004) Blood Coagul Fibrinolysis , vol.15 , pp. 99-102
    • Segal, A.1    Zivelin, A.2    Rosenberg, N.3    Ginsburg, D.4    Shpilberg, O.5    Seligsohn, U.6
  • 14
    • 2342653511 scopus 로고    scopus 로고
    • Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran
    • Mansouritorgabeh H, Rezaieyazdi Z, Pourfathollah AA, Rezai J, Esamaili H. Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran. Haemophilia 2004; 10: 271-5.
    • (2004) Haemophilia , vol.10 , pp. 271-275
    • Mansouritorgabeh, H.1    Rezaieyazdi, Z.2    Pourfathollah, A.A.3    Rezai, J.4    Esamaili, H.5
  • 15
    • 0031881892 scopus 로고    scopus 로고
    • Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII
    • Peyvandi F, Tuddenham EG, Akhtari AM, Lak M, Mannucci PM. Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. Br J Haematol 1998; 100: 773-6.
    • (1998) Br J Haematol , vol.100 , pp. 773-776
    • Peyvandi, F.1    Tuddenham, E.G.2    Akhtari, A.M.3    Lak, M.4    Mannucci, P.M.5
  • 16
    • 0030762916 scopus 로고    scopus 로고
    • The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103
    • Neerman-Arbez M, Antonarakis SE, Blouin JL et al. The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103. Am J Hum Genet 1997; 61: 143-50.
    • (1997) Am J Hum Genet , vol.61 , pp. 143-150
    • Neerman-Arbez, M.1    Antonarakis, S.E.2    Blouin, J.L.3
  • 17
    • 0033120708 scopus 로고    scopus 로고
    • Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency
    • Neerman-Arbez M, Johnson KM, Morris MA et al. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. Blood 1999; 93: 2253-60.
    • (1999) Blood , vol.93 , pp. 2253-2260
    • Neerman-Arbez, M.1    Johnson, K.M.2    Morris, M.A.3
  • 18
    • 47049131483 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in combined deficiency of factor V and factor VIII
    • Zhang B, Spreafico M, Zheng C et al. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. Blood 2008; 111: 5592-600.
    • (2008) Blood , vol.111 , pp. 5592-5600
    • Zhang, B.1    Spreafico, M.2    Zheng, C.3
  • 19
    • 0033120795 scopus 로고    scopus 로고
    • ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families
    • Nichols WC, Terry VH, Wheatley MA et al. ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. Blood 1999; 93: 2261-6.
    • (1999) Blood , vol.93 , pp. 2261-2266
    • Nichols, W.C.1    Terry, V.H.2    Wheatley, M.A.3
  • 20
    • 33846900444 scopus 로고    scopus 로고
    • A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients
    • D'Ambrosio R, Santacroce R, Di Perna P, Sarno M, Romondia A, Margaglione M. A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients. Blood Coagul Fibrinolysis 2007; 18: 203-4.
    • (2007) Blood Coagul Fibrinolysis , vol.18 , pp. 203-204
    • D'Ambrosio, R.1    Santacroce, R.2    Di Perna, P.3    Sarno, M.4    Romondia, A.5    Margaglione, M.6
  • 21
    • 1642369785 scopus 로고    scopus 로고
    • Review of clinical, biochemical and genetic aspects of combined factor V and factor VIII deficiency, and report of a new affected family
    • Faioni EM, Fontana G, Carpani G et al. Review of clinical, biochemical and genetic aspects of combined factor V and factor VIII deficiency, and report of a new affected family. Thromb Res 2003; 112: 269-71.
    • (2003) Thromb Res , vol.112 , pp. 269-271
    • Faioni, E.M.1    Fontana, G.2    Carpani, G.3
  • 22
    • 33646465448 scopus 로고    scopus 로고
    • Combined factor V - Factor VIII deficiency (F5F8D): Compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient
    • Farah RA, de Moerloose P, Bouchardy I et al. Combined factor V - factor VIII deficiency (F5F8D): Compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient. Thromb Haemost 2006; 95: 893-5.
    • (2006) Thromb Haemost , vol.95 , pp. 893-895
    • Farah, R.A.1    de Moerloose, P.2    Bouchardy, I.3
  • 23
    • 0037646253 scopus 로고    scopus 로고
    • Hereditary combined coagulation factor V and factor VIII deficiency: Report of two Indian families from Varanasi
    • Shukla J, Singhal R, Garbyal RS, Singh VP, Dube B. Hereditary combined coagulation factor V and factor VIII deficiency: Report of two Indian families from Varanasi. Indian J Pathol Microbiol 2002; 45: 151-4.
    • (2002) Indian J Pathol Microbiol , vol.45 , pp. 151-154
    • Shukla, J.1    Singhal, R.2    Garbyal, R.S.3    Singh, V.P.4    Dube, B.5
  • 24
    • 0033824690 scopus 로고    scopus 로고
    • Combined factor V and VIII deficiency in Indian population
    • Shetty S, Madkaikar M, Nair S et al. Combined factor V and VIII deficiency in Indian population. Haemophilia 2000; 6: 504-7.
    • (2000) Haemophilia , vol.6 , pp. 504-507
    • Shetty, S.1    Madkaikar, M.2    Nair, S.3
  • 25
    • 23244461060 scopus 로고    scopus 로고
    • Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII
    • Mohanty D, Ghosh K, Shetty S, Spreafico M, Garagiola I, Peyvandi F. Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII. Am J Hematol 2005; 79: 262-6.
    • (2005) Am J Hematol , vol.79 , pp. 262-266
    • Mohanty, D.1    Ghosh, K.2    Shetty, S.3    Spreafico, M.4    Garagiola, I.5    Peyvandi, F.6
  • 26
    • 34447293733 scopus 로고    scopus 로고
    • Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India
    • Jayandharan G, Spreafico M, Viswabandya A, Chandy M, Srivastava A, Peyvandi F. Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India. Haemophilia 2007; 13: 413-9.
    • (2007) Haemophilia , vol.13 , pp. 413-419
    • Jayandharan, G.1    Spreafico, M.2    Viswabandya, A.3    Chandy, M.4    Srivastava, A.5    Peyvandi, F.6
  • 27
    • 0034981641 scopus 로고    scopus 로고
    • Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency
    • Dansako H, Ishimaru F, Takai Y et al. Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency. Ann Hematol 2001; 80: 292-4.
    • (2001) Ann Hematol , vol.80 , pp. 292-294
    • Dansako, H.1    Ishimaru, F.2    Takai, Y.3
  • 28
    • 34848882778 scopus 로고    scopus 로고
    • Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene
    • Ma ES, Wong CL, Lam HY, Wang CL, Ma SY. Combined factors V and VIII deficiency (F5F8D) in a Chinese family due to compound heterozygosity for nonsense mutations of the LMAN1 gene. Br J Haematol 2007; 139: 509-11.
    • (2007) Br J Haematol , vol.139 , pp. 509-511
    • Ma, E.S.1    Wong, C.L.2    Lam, H.Y.3    Wang, C.L.4    Ma, S.Y.5
  • 29
    • 19444371847 scopus 로고    scopus 로고
    • Combined factor V and factor VIII deficiency in a Thai patient: A case report of genotype and phenotype characteristics
    • Sirachainan N, Zhang B, Chuansumrit A, Pipe S, Sasanakul W, Ginsburg D. Combined factor V and factor VIII deficiency in a Thai patient: A case report of genotype and phenotype characteristics. Haemophilia 2005; 11: 280-4.
    • (2005) Haemophilia , vol.11 , pp. 280-284
    • Sirachainan, N.1    Zhang, B.2    Chuansumrit, A.3    Pipe, S.4    Sasanakul, W.5    Ginsburg, D.6
  • 30
    • 38949176056 scopus 로고    scopus 로고
    • Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency
    • Nyfeler B, Kamiya Y, Boehlen F et al. Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency. Blood 2008; 111: 1299-301.
    • (2008) Blood , vol.111 , pp. 1299-1301
    • Nyfeler, B.1    Kamiya, Y.2    Boehlen, F.3
  • 32
    • 55949125593 scopus 로고    scopus 로고
    • ERGIC-53 is a functional mannose-selective and calcium-dependent human homologue of leguminous lectins
    • Itin C, Roche AC, Monsigny M, Hauri HP. ERGIC-53 is a functional mannose-selective and calcium-dependent human homologue of leguminous lectins. J Cell Biol 1996; 107: 483-93.
    • (1996) J Cell Biol , vol.107 , pp. 483-493
    • Itin, C.1    Roche, A.C.2    Monsigny, M.3    Hauri, H.P.4
  • 33
    • 0037013292 scopus 로고    scopus 로고
    • Crystal structure of the carbohydrate recognition domain of p58/ ERGIC-53, a protein involved in glycoprotein export from the endoplasmic reticulum
    • Velloso LM, Svensson K, Schneider G, Pettersson RF, Lindqvist Y. Crystal structure of the carbohydrate recognition domain of p58/ERGIC-53, a protein involved in glycoprotein export from the endoplasmic reticulum. J Biol Chem 2002; 277: 15979-84.
    • (2002) J Biol Chem , vol.277 , pp. 15979-15984
    • Velloso, L.M.1    Svensson, K.2    Schneider, G.3    Pettersson, R.F.4    Lindqvist, Y.5
  • 34
    • 0344873595 scopus 로고    scopus 로고
    • The crystal structure of the carbohydrate-recognition domain of the glycoprotein sorting receptor p58/ERGIC-53 reveals an unpredicted metal-binding site and conformational changes associated with calcium ion binding
    • Velloso LM, Svensson K, Pettersson RF, Lindqvist Y. The crystal structure of the carbohydrate-recognition domain of the glycoprotein sorting receptor p58/ERGIC-53 reveals an unpredicted metal-binding site and conformational changes associated with calcium ion binding. J Mol Biol 2003; 334: 845-51.
    • (2003) J Mol Biol , vol.334 , pp. 845-851
    • Velloso, L.M.1    Svensson, K.2    Pettersson, R.F.3    Lindqvist, Y.4
  • 35
    • 0033553858 scopus 로고    scopus 로고
    • p24 proteins and quality control of LIN-12 and GLP-1 trafficking in Caenorhabditis elegans
    • Wen C, Greenwald I. p24 proteins and quality control of LIN-12 and GLP-1 trafficking in Caenorhabditis elegans. J Cell Biol 1999; 145: 1165-75.
    • (1999) J Cell Biol , vol.145 , pp. 1165-1175
    • Wen, C.1    Greenwald, I.2
  • 36
    • 41349121801 scopus 로고    scopus 로고
    • The sugar-binding ability of ERGIC-53 is enhanced by its interaction with MCFD2
    • Kawasaki N, Ichikawa Y, Matsuo I et al. The sugar-binding ability of ERGIC-53 is enhanced by its interaction with MCFD2. Blood 2008; 111: 1972-9.
    • (2008) Blood , vol.111 , pp. 1972-1979
    • Kawasaki, N.1    Ichikawa, Y.2    Matsuo, I.3
  • 37
    • 33749510461 scopus 로고    scopus 로고
    • Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex
    • Nyfeler B, Zhang B, Ginsburg D, Kaufman RJ, Hauri HP. Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex. Traffic 2006; 7: 1473-81.
    • (2006) , vol.7 , pp. 1473-1481
    • Nyfeler, B.1    Zhang, B.2    Ginsburg, D.3    Kaufman, R.J.4    Hauri, H.P.5
  • 38
    • 0032572579 scopus 로고    scopus 로고
    • Mistargeting of the lectin ERGIC-53 to the endoplasmic reticulum of HeLa cells impairs the secretion of a lysosomal enzyme
    • Vollenweider F, Kappeler F, Itin C, Hauri HP. Mistargeting of the lectin ERGIC-53 to the endoplasmic reticulum of HeLa cells impairs the secretion of a lysosomal enzyme. J Cell Biol 1998; 142: 377-89.
    • (1998) J Cell Biol , vol.142 , pp. 377-389
    • Vollenweider, F.1    Kappeler, F.2    Itin, C.3    Hauri, H.P.4
  • 39
    • 4844229372 scopus 로고    scopus 로고
    • The rare coagulation disorders-review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation
    • Bolton-Maggs PH, Perry DJ, Chalmers EA et al. The rare coagulation disorders-review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia 2004; 10: 593-628.
    • (2004) Haemophilia , vol.10 , pp. 593-628
    • Bolton-Maggs, P.H.1    Perry, D.J.2    Chalmers, E.A.3
  • 41
    • 0035129724 scopus 로고    scopus 로고
    • Current therapy for rare factor deficiency
    • Di Paola J, Nugent D, Young G. Current therapy for rare factor deficiency. Haemophilia 2001; 7 (suppl. 1): 16-22.
    • (2001) Haemophilia , vol.7 , Issue.SUPPL. 1 , pp. 16-22
    • Di Paola, J.1    Nugent, D.2    Young, G.3
  • 42
    • 30344434999 scopus 로고    scopus 로고
    • Influence of the type of factor VIII concentrate on the incidence of factor VIII inhibitors in previously untreated patients with severe hemophilia A
    • Goudemand J, Rothschild C, Demiguel V et al. Influence of the type of factor VIII concentrate on the incidence of factor VIII inhibitors in previously untreated patients with severe hemophilia A. Blood 2006; 107: 46-51.
    • (2006) Blood , vol.107 , pp. 46-51
    • Goudemand, J.1    Rothschild, C.2    Demiguel, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.