메뉴 건너뛰기




Volumn 103, Issue 2, 2004, Pages 456-464

Clinical course of patients with WASP gene mutations

Author keywords

[No Author keywords available]

Indexed keywords

WISKOTT ALDRICH SYNDROME PROTEIN;

EID: 9144241005     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-05-1480     Document Type: Article
Times cited : (322)

References (34)
  • 2
    • 0027937223 scopus 로고
    • Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
    • Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78:635-644. Erratum in: Cell. 1994;799:922.
    • (1994) Cell , vol.78 , pp. 635-644
    • Derry, J.M.1    Ochs, H.D.2    Francke, U.3
  • 3
    • 0027937223 scopus 로고
    • Erratum
    • Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78:635-644. Erratum in: Cell. 1994;799:922.
    • (1994) Cell , vol.799 , pp. 922
  • 5
    • 0031755919 scopus 로고    scopus 로고
    • The Wiskott-Aldrich syndrome
    • Ochs HD. The Wiskott-Aldrich syndrome. Semin Hematol. 1998;35:332-345.
    • (1998) Semin Hematol , vol.35 , pp. 332-345
    • Ochs, H.D.1
  • 6
    • 0036717243 scopus 로고    scopus 로고
    • WASp in immune-system organization and function
    • Thrasher AJ. WASp in immune-system organization and function. Nat Rev Immunol. 2002;2:635-646.
    • (2002) Nat Rev Immunol , vol.2 , pp. 635-646
    • Thrasher, A.J.1
  • 7
    • 0028937177 scopus 로고
    • X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
    • Villa A, Notarangelo L, Macchi P, et al. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet. 1995;9:414-417.
    • (1995) Nat Genet , vol.9 , pp. 414-417
    • Villa, A.1    Notarangelo, L.2    Macchi, P.3
  • 8
    • 0028786330 scopus 로고
    • The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene
    • Zhu Q, Zhang M, Blaese RM, et al. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood. 1995;86:3797-3804.
    • (1995) Blood , vol.86 , pp. 3797-3804
    • Zhu, Q.1    Zhang, M.2    Blaese, R.M.3
  • 9
    • 0028850286 scopus 로고
    • High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome
    • Wengler GS, Notarangelo LD, Berardelli S, et al. High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. Blood. 1995;86:3648-3654.
    • (1995) Blood , vol.86 , pp. 3648-3654
    • Wengler, G.S.1    Notarangelo, L.D.2    Berardelli, S.3
  • 10
    • 0030804315 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome/X-linked thrombocytopenia-WASP gene mutations, protein expression, and phenotype
    • Zhu QL, Watanabe C, Liu T, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia-WASP gene mutations, protein expression, and phenotype. Blood. 1997;90:2680-2689.
    • (1997) Blood , vol.90 , pp. 2680-2689
    • Zhu, Q.L.1    Watanabe, C.2    Liu, T.3
  • 11
    • 0033035452 scopus 로고    scopus 로고
    • Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes
    • Lemahieu V, Gastier JM, Francke U. Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. Hum Mutat. 1999;14:54-66.
    • (1999) Hum Mutat , vol.14 , pp. 54-66
    • Lemahieu, V.1    Gastier, J.M.2    Francke, U.3
  • 12
    • 0029999252 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome: No strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product
    • Schindelhauer D, Weiss M, Hellebrand H, et al. Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. Hum Genet. 1996;98:68-76.
    • (1996) Hum Genet , vol.98 , pp. 68-76
    • Schindelhauer, D.1    Weiss, M.2    Hellebrand, H.3
  • 13
    • 0033657022 scopus 로고    scopus 로고
    • Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia
    • Itoh S, Nonoyama S, Modo T, et al. Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Int J Hematol. 2000;71:79-83.
    • (2000) Int J Hematol , vol.71 , pp. 79-83
    • Itoh, S.1    Nonoyama, S.2    Modo, T.3
  • 14
    • 0037974777 scopus 로고    scopus 로고
    • Kawasaki disease in a patient with Wiskott-Aldrich syndrome: An increase in the platelet count
    • Kawakami C, Miyake M, Tamai H. Kawasaki disease in a patient with Wiskott-Aldrich syndrome: an increase in the platelet count. Int J Hematol. 2003;77:199-200.
    • (2003) Int J Hematol , vol.77 , pp. 199-200
    • Kawakami, C.1    Miyake, M.2    Tamai, H.3
  • 15
    • 0036049649 scopus 로고    scopus 로고
    • X-linked thrombocytopenia in a girl
    • Inoue H, Kurosawa H, Nonoyama S, et al. X-linked thrombocytopenia in a girl. Br J Haematol. 2002;118:1163-1165.
    • (2002) Br J Haematol , vol.118 , pp. 1163-1165
    • Inoue, H.1    Kurosawa, H.2    Nonoyama, S.3
  • 16
    • 0036252130 scopus 로고    scopus 로고
    • The Wiskott-Aldrich syndrome
    • Ochs HD. The Wiskott-Aldrich syndrome. Isr Med Assoc J. 2002;4:379-384.
    • (2002) Isr Med Assoc J , vol.4 , pp. 379-384
    • Ochs, H.D.1
  • 17
    • 0034597310 scopus 로고    scopus 로고
    • Gene regulation of Wiskott-Aldrich syndrome protein and the human homolog of the Drosophila Su(var)3-9: WASP and SUV39H1, two adjacent genes at Xp11.23
    • Hagemann TL, Mares D, Kwan S. Gene regulation of Wiskott-Aldrich syndrome protein and the human homolog of the Drosophila Su(var)3-9: WASP and SUV39H1, two adjacent genes at Xp11.23. Biochim Biophys Acta. 2000;1493:368-372.
    • (2000) Biochim Biophys Acta , vol.1493 , pp. 368-372
    • Hagemann, T.L.1    Mares, D.2    Kwan, S.3
  • 18
    • 0034017299 scopus 로고    scopus 로고
    • Development of allergies and asthma in infants and young children with atopic dermatitis - A prospective follow-up to 7 years of age
    • Gustafsson D, Sjoberg O, Foucard T. Development of allergies and asthma in infants and young children with atopic dermatitis - a prospective follow-up to 7 years of age. Allergy. 2000;55:240-245.
    • (2000) Allergy , vol.55 , pp. 240-245
    • Gustafsson, D.1    Sjoberg, O.2    Foucard, T.3
  • 19
    • 0031020518 scopus 로고    scopus 로고
    • Epstein-Barr virus-associated malignant lymphoma with macroamylasemia and monoclonal gammopathy in a patient with Wiskott-Aldrich syndrome
    • Yoshida K, Minegishi Y, Okawa H, et al. Epstein-Barr virus-associated malignant lymphoma with macroamylasemia and monoclonal gammopathy in a patient with Wiskott-Aldrich syndrome. Pediatr Hematol Oncol. 1997;14:85-89.
    • (1997) Pediatr Hematol Oncol , vol.14 , pp. 85-89
    • Yoshida, K.1    Minegishi, Y.2    Okawa, H.3
  • 20
    • 20244379555 scopus 로고    scopus 로고
    • WASPbase - A database of WAS- and XLT-causing mutations
    • Schwarz K, Nonoyama S, Peitsch MC, et al. WASPbase - a database of WAS- and XLT-causing mutations. Immunol Today. 1996;17:496-502.
    • (1996) Immunol Today , vol.17 , pp. 496-502
    • Schwarz, K.1    Nonoyama, S.2    Peitsch, M.C.3
  • 21
    • 0027444915 scopus 로고
    • T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses
    • Molina IJ, Sancho J, Terhorst C, Rosen FS, Remold-O'Donnell E. T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses. J Immunol. 1993;151:4383-4390.
    • (1993) J Immunol , vol.151 , pp. 4383-4390
    • Molina, I.J.1    Sancho, J.2    Terhorst, C.3    Rosen, F.S.4    Remold-O'Donnell, E.5
  • 25
    • 0024217965 scopus 로고
    • IgA glomerulonephritis in Wiskott-Aldrich syndrome
    • DeSanto NG, Sessa A, Capodicasa G, et al. IgA glomerulonephritis in Wiskott-Aldrich syndrome. Child Nephrol Urol. 1988;9:118-120.
    • (1988) Child Nephrol Urol , vol.9 , pp. 118-120
    • DeSanto, N.G.1    Sessa, A.2    Capodicasa, G.3
  • 26
    • 0029021349 scopus 로고
    • A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255
    • Bennett CP, Barnicoat AJ, Cotter F, Wang Q, Mathew CG. A variant of Wiskott-Aldrich syndrome with nephropathy is linked to DXS255 [letter]. J Med Genet. 1995;32:757-758.
    • (1995) J Med Genet , vol.32 , pp. 757-758
    • Bennett, C.P.1    Barnicoat, A.J.2    Cotter, F.3    Wang, Q.4    Mathew, C.G.5
  • 27
    • 0034990177 scopus 로고    scopus 로고
    • Henoch-Schonlein purpura in Wiskott-Aldrich syndrome
    • Duzova A, Topaloglu R, Sanal O, et al. Henoch-Schonlein purpura in Wiskott-Aldrich syndrome. Pediatr Nephrol. 2001;16:500-502.
    • (2001) Pediatr Nephrol , vol.16 , pp. 500-502
    • Duzova, A.1    Topaloglu, R.2    Sanal, O.3
  • 28
    • 0033994632 scopus 로고    scopus 로고
    • Expression of human Wiskott-Aldrich syndrome protein in patients' cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins
    • Huang MM, Tsuboi S, Wong A, et al. Expression of human Wiskott-Aldrich syndrome protein in patients' cells leads to partial correction of a phenotypic abnormality of cell surface glycoproteins. Gene Ther. 2000;7:314-320.
    • (2000) Gene Ther , vol.7 , pp. 314-320
    • Huang, M.M.1    Tsuboi, S.2    Wong, A.3
  • 29
    • 0034002921 scopus 로고    scopus 로고
    • IgA1 glycosylation and the pathogenesis of IgA nephropathy
    • Allen AC, Feehally J. IgA1 glycosylation and the pathogenesis of IgA nephropathy. Am J Kidney Dis. 2000;35:551-556.
    • (2000) Am J Kidney Dis , vol.35 , pp. 551-556
    • Allen, A.C.1    Feehally, J.2
  • 30
    • 0031134088 scopus 로고    scopus 로고
    • Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients
    • Remold-O'Donnell E, Cooley J, Shcherbina A, et al. Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. J Immunol. 1997;158:4021-4025.
    • (1997) J Immunol , vol.158 , pp. 4021-4025
    • Remold-O'Donnell, E.1    Cooley, J.2    Shcherbina, A.3
  • 31
    • 0035902552 scopus 로고    scopus 로고
    • Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism
    • Wada T, Schurman SH, Otsu M, et al. Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. Proc Natl Acad Sci U S A. 2001;98:8697-8702.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 8697-8702
    • Wada, T.1    Schurman, S.H.2    Otsu, M.3
  • 32
    • 0035871629 scopus 로고    scopus 로고
    • Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome
    • Ariga T, Kondoh T, Yamaguchi K, et al. Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome. J Immunol. 2001;166:5245-5249.
    • (2001) J Immunol , vol.166 , pp. 5245-5249
    • Ariga, T.1    Kondoh, T.2    Yamaguchi, K.3
  • 33
    • 0035869537 scopus 로고    scopus 로고
    • Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: Collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program
    • Filipovich AH, Stone JV, Tomany SC, et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome: collaborative study of the International Bone Marrow Transplant Registry and the National Marrow Donor Program. Blood. 2001;97:1598-1603.
    • (2001) Blood , vol.97 , pp. 1598-1603
    • Filipovich, A.H.1    Stone, J.V.2    Tomany, S.C.3
  • 34
    • 0027437515 scopus 로고
    • Splenectomy and/or bone marrow transplantation in the management of the Wiskott-Aldrich syndrome: Long-term follow-up of 62 cases
    • Mullen CA, Anderson KD, Blaese RM. Splenectomy and/or bone marrow transplantation in the management of the Wiskott-Aldrich syndrome: long-term follow-up of 62 cases. Blood. 1993;82:2961-2966.
    • (1993) Blood , vol.82 , pp. 2961-2966
    • Mullen, C.A.1    Anderson, K.D.2    Blaese, R.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.