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Volumn 145, Issue 1, 2007, Pages 15-23

Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan

Author keywords

Chinese; Molecular analysis; Primary immunodeficiency diseases; Taiwan; Wiskott Aldrich Syndrome

Indexed keywords

IMMUNOGLOBULIN; PROTEIN; UNCLASSIFIED DRUG; WAS PROTEIN;

EID: 37249045870     PISSN: 10182438     EISSN: None     Source Type: Journal    
DOI: 10.1159/000107462     Document Type: Article
Times cited : (9)

References (48)
  • 1
    • 0000788042 scopus 로고
    • Familiärer, angeborener Morbus Werlhofii?
    • Wiskott A: Familiärer, angeborener Morbus Werlhofii? Monatsschr Kinderheilkd 1937;68:212-216.
    • (1937) Monatsschr Kinderheilkd , vol.68 , pp. 212-216
    • Wiskott, A.1
  • 4
    • 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.
    • (1994) Cell , vol.78 , pp. 635-644
    • Derry, J.M.1    Ochs, H.D.2    Francke, U.3
  • 5
    • 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, Pollonni G, Mella P, Fasth A, Ugazio AG, Parolini O: 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    Pollonni, G.4    Mella, P.5    Fasth, A.6    Ugazio, A.G.7    Parolini, O.8
  • 6
    • 0030804315 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype
    • Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD: 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.1    Watanabe, C.2    Liu, T.3    Hollenbaugh, D.4    Blaese, R.M.5    Kanner, S.B.6    Aruffo, A.7    Ochs, H.D.8
  • 7
    • 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
  • 9
    • 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, Golla A, Hergersberg M, Seger R, Belohradsky BH, Meindl A: 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    Golla, A.4    Hergersberg, M.5    Seger, R.6    Belohradsky, B.H.7    Meindl, A.8
  • 10
    • 0018640161 scopus 로고
    • Two Malaysian Chinese male children with the Wiskott-Aldrich syndrome
    • Tong YH, Sinniah D, Murugasu R, White JC: Two Malaysian Chinese male children with the Wiskott-Aldrich syndrome. Singapore Med J 1979;20:355-359.
    • (1979) Singapore Med J , vol.20 , pp. 355-359
    • Tong, Y.H.1    Sinniah, D.2    Murugasu, R.3    White, J.C.4
  • 11
    • 0021236536 scopus 로고
    • Acute immune complex mediated glomerulonephritis in a Chinese girl with Wiskott-Aldrich syndrome variant
    • Lin CY, Hsu HC: Acute immune complex mediated glomerulonephritis in a Chinese girl with Wiskott-Aldrich syndrome variant. Ann Allergy 1984;53:74-78.
    • (1984) Ann Allergy , vol.53 , pp. 74-78
    • Lin, C.Y.1    Hsu, H.C.2
  • 12
    • 0026693064 scopus 로고
    • Defective B-cell and regulatory T-cell function in Wiskott-Aldrich syndrome
    • Lau YL, Jones BM, Low LC, Wong SN, Leung NK: Defective B-cell and regulatory T-cell function in Wiskott-Aldrich syndrome. Eur J Pediatr 1992;151:680-683.
    • (1992) Eur J Pediatr , vol.151 , pp. 680-683
    • Lau, Y.L.1    Jones, B.M.2    Low, L.C.3    Wong, S.N.4    Leung, N.K.5
  • 13
    • 0026447796 scopus 로고
    • Takayasu's arteritis associated with Wiskott-Aldrich syndrome
    • Lau YL, Wong SN, Lawton WM: Takayasu's arteritis associated with Wiskott-Aldrich syndrome. J Paediatr Child Health 1992;28:407-409.
    • (1992) J Paediatr Child Health , vol.28 , pp. 407-409
    • Lau, Y.L.1    Wong, S.N.2    Lawton, W.M.3
  • 16
    • 0028786330 scopus 로고
    • The Wiskott-Aldrich syndrome and Xlinked congenital thrombocytopenia are caused by mutations of the same gene
    • Zhu Q, Zhang M, Blaese RM, Derry JM, Junker A, Francke U, Chen SH, Ochs HD: The Wiskott-Aldrich syndrome and Xlinked 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    Derry, J.M.4    Junker, A.5    Francke, U.6    Chen, S.H.7    Ochs, H.D.8
  • 17
    • 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
  • 18
    • 0021362144 scopus 로고
    • Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM
    • Levitt D, Ochs H, Wedgwood RJ: Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM. J Clin Immunol 1984;4:143-150.
    • (1984) J Clin Immunol , vol.4 , pp. 143-150
    • Levitt, D.1    Ochs, H.2    Wedgwood, R.J.3
  • 19
    • 17744369884 scopus 로고    scopus 로고
    • Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period
    • Lee WI, Kuo ML, Huang JL, Lin SJ, Wu CJ: Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period. J Clin Immunol 2005;18:162-172.
    • (2005) J Clin Immunol , vol.18 , pp. 162-172
    • Lee, W.I.1    Kuo, M.L.2    Huang, J.L.3    Lin, S.J.4    Wu, C.J.5
  • 21
    • 0037103355 scopus 로고    scopus 로고
    • Mixed chimera status of 12 patients with Wiskott-Aldrich syndrome (WAS) after hematopoietic stem cell transplantation: Evaluation by flow cytometric analysis of intracellular WAS protein expression
    • Yamaguchi K, Ariga T, Yamada M, Nelson DL, Kobayashi R, Kobayashi C, Noguchi Y, Ito Y, Katamura K, Nagatoshi Y, Kondo S, Katoh H, Sakiyama Y: Mixed chimera status of 12 patients with Wiskott-Aldrich syndrome (WAS) after hematopoietic stem cell transplantation: evaluation by flow cytometric analysis of intracellular WAS protein expression. Blood 2002;100:1208-1214.
    • (2002) Blood , vol.100 , pp. 1208-1214
    • Yamaguchi, K.1    Ariga, T.2    Yamada, M.3    Nelson, D.L.4    Kobayashi, R.5    Kobayashi, C.6    Noguchi, Y.7    Ito, Y.8    Katamura, K.9    Nagatoshi, Y.10    Kondo, S.11    Katoh, H.12    Sakiyama, Y.13
  • 22
    • 20144375960 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation in Taiwanese children with primary immunodeficiency
    • Yang YL, Lu MY, Jou ST, Lin KH, Lin DT: Hematopoietic stem cell transplantation in Taiwanese children with primary immunodeficiency. J Formos Med Assoc 2005;104:101-106.
    • (2005) J Formos Med Assoc , vol.104 , pp. 101-106
    • Yang, Y.L.1    Lu, M.Y.2    Jou, S.T.3    Lin, K.H.4    Lin, D.T.5
  • 23
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variation
    • Den Dunnen JT, Antonarakis SE: Nomenclature for the description of human sequence variation. Hum Genet 2001;109:121-124.
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 25
    • 2942717809 scopus 로고    scopus 로고
    • WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype
    • Imai K, Nonoyama S, Ochs HD: WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol 2003;3:427-436.
    • (2003) Curr Opin Allergy Clin Immunol , vol.3 , pp. 427-436
    • Imai, K.1    Nonoyama, S.2    Ochs, H.D.3
  • 27
    • 9644272573 scopus 로고    scopus 로고
    • Perspectives of gene therapy for primary immunodeficiencies
    • Chinen J, Puck JM: Perspectives of gene therapy for primary immunodeficiencies. Curr Opin Allergy Clin Immunol 2004;4:523-527.
    • (2004) Curr Opin Allergy Clin Immunol , vol.4 , pp. 523-527
    • Chinen, J.1    Puck, J.M.2
  • 29
    • 17444387998 scopus 로고    scopus 로고
    • Primary immunodeficiency in Hong Kong and the use of genetic analysis for diagnosis
    • Lam DS, Lee TL, Chan KW, Ho HK, Lau YL: Primary immunodeficiency in Hong Kong and the use of genetic analysis for diagnosis. Hong Kong Med J 2005;11:90-96.
    • (2005) Hong Kong Med J , vol.11 , pp. 90-96
    • Lam, D.S.1    Lee, T.L.2    Chan, K.W.3    Ho, H.K.4    Lau, Y.L.5
  • 30
    • 0038020120 scopus 로고    scopus 로고
    • Umbilical cord blood transplantation in Wiskott Aldrich syndrome
    • Knutsen AP, Steffen M, Wassmer K, Wall DA: Umbilical cord blood transplantation in Wiskott Aldrich syndrome. J Pediatr 2003;142:519-523.
    • (2003) J Pediatr , vol.142 , pp. 519-523
    • Knutsen, A.P.1    Steffen, M.2    Wassmer, K.3    Wall, D.A.4
  • 32
    • 37249006442 scopus 로고    scopus 로고
    • Overview of clinical occurrence of primary immunodeficiency disorders in children
    • Zhao HJ, Chen TX, Hao YQ, Zhou YF, Ying DM: Overview of clinical occurrence of primary immunodeficiency disorders in children. Zhonghua Er Ke Za Zhi 2006;44:403-406.
    • (2006) Zhonghua Er Ke Za Zhi , vol.44 , pp. 403-406
    • Zhao, H.J.1    Chen, T.X.2    Hao, Y.Q.3    Zhou, Y.F.4    Ying, D.M.5
  • 34
    • 33745118658 scopus 로고    scopus 로고
    • Distribution, infections, treatments and molecular analysis in a large cohort of patients with primary immunodeficiency diseases (PIDs) in Taiwan
    • Lee WI, Jaing TH, Hsieh MY, Kuo ML, Lin SJ, Huang JL: Distribution, infections, treatments and molecular analysis in a large cohort of patients with primary immunodeficiency diseases (PIDs) in Taiwan. J Clin Immunol 2006;26:274-283.
    • (2006) J Clin Immunol , vol.26 , pp. 274-283
    • Lee, W.I.1    Jaing, T.H.2    Hsieh, M.Y.3    Kuo, M.L.4    Lin, S.J.5    Huang, J.L.6
  • 36
    • 0024673076 scopus 로고
    • Wiskott-Aldrich syndrome in a heterozygous carrier woman
    • Tornai I, Kiss A, Laczko J: Wiskott-Aldrich syndrome in a heterozygous carrier woman. Eur J Haematol 1989;42:501-502.
    • (1989) Eur J Haematol , vol.42 , pp. 501-502
    • Tornai, I.1    Kiss, A.2    Laczko, J.3
  • 37
    • 0026410118 scopus 로고
    • Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS
    • Notarangelo LD, Parolini O, Porta F, Locatelli F, Lanfranchi A, Marconi M, Nespoli L, Albertini A, Craig IW, Ugazio AG: Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS. Hum Genet 1991;88:237-241.
    • (1991) Hum Genet , vol.88 , pp. 237-241
    • Notarangelo, L.D.1    Parolini, O.2    Porta, F.3    Locatelli, F.4    Lanfranchi, A.5    Marconi, M.6    Nespoli, L.7    Albertini, A.8    Craig, I.W.9    Ugazio, A.G.10
  • 38
    • 0027739927 scopus 로고
    • X chromosome inactivation patterns in leucocyte populations of female carriers of Wiskott-Aldrich syndrome with an atypical presentation
    • De Weers M, Mensink RG, Kraakman ME, Schuurman RK, Hendriks RW: X chromosome inactivation patterns in leucocyte populations of female carriers of Wiskott-Aldrich syndrome with an atypical presentation. Immunodeficiency 1993;4:267-269.
    • (1993) Immunodeficiency , vol.4 , pp. 267-269
    • De Weers, M.1    Mensink, R.G.2    Kraakman, M.E.3    Schuurman, R.K.4    Hendriks, R.W.5
  • 39
    • 0029836850 scopus 로고    scopus 로고
    • Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene
    • De Saint Basile G, Lagelouse RD, Lambert N, Schwarz K, Le Mareck B, Odent S, Schlegel N, Fischer A: Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. J Pediatr 1996;129:56-62.
    • (1996) J Pediatr , vol.129 , pp. 56-62
    • De Saint Basile, G.1    Lagelouse, R.D.2    Lambert, N.3    Schwarz, K.4    Le Mareck, B.5    Odent, S.6    Schlegel, N.7    Fischer, A.8
  • 41
    • 0033064394 scopus 로고    scopus 로고
    • Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of Wiskott-Aldrich syndrome
    • Ariga T, Yamada M, Wada T, Saitoh S, Sakiyama Y: Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of Wiskott-Aldrich syndrome. Br J Haematol 1999;104:893-900.
    • (1999) Br J Haematol , vol.104 , pp. 893-900
    • Ariga, T.1    Yamada, M.2    Wada, T.3    Saitoh, S.4    Sakiyama, Y.5
  • 46
    • 0029016982 scopus 로고
    • Random X chromosome inactivation in a female with a variant of Wiskott-Aldrich syndrome
    • Russell SJ, Nisen PD: Random X chromosome inactivation in a female with a variant of Wiskott-Aldrich syndrome. Br J Haematol 1995;90:210-212.
    • (1995) Br J Haematol , vol.90 , pp. 210-212
    • Russell, S.J.1    Nisen, P.D.2
  • 47
    • 0028788612 scopus 로고
    • Two sisters with clinical diagnosis of Wiskott-Aldrich syndrome: Is the condition in the family autosomal recessive?
    • Kondoh T, Hayashi K, Matsumoto T, Yoshimoto M, Morio T, Yata J, Tsuji Y: Two sisters with clinical diagnosis of Wiskott-Aldrich syndrome: is the condition in the family autosomal recessive? Am J Med Genet 1995;60:364-369.
    • (1995) Am J Med Genet , vol.60 , pp. 364-369
    • Kondoh, T.1    Hayashi, K.2    Matsumoto, T.3    Yoshimoto, M.4    Morio, T.5    Yata, J.6    Tsuji, Y.7
  • 48
    • 0031576915 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome in two sisters
    • Kondoh T, Matsumoto T, Tsuji Y: Wiskott-Aldrich syndrome in two sisters. Am J Med Genet 1997;74:218-219.
    • (1997) Am J Med Genet , vol.74 , pp. 218-219
    • Kondoh, T.1    Matsumoto, T.2    Tsuji, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.