메뉴 건너뛰기




Volumn 29, Issue 4, 2009, Pages 490-500

Clinical and molecular characteristics of 35 chinese children with wiskott-aldrich syndrome

Author keywords

Chinese; immunodeficiency; transplant; WASP; Wiskott aldrich syndrome

Indexed keywords

ALEMTUZUMAB; ANTINEOPLASTIC AGENT; BUSULFAN; CARMUSTINE; CYCLOPHOSPHAMIDE; CYCLOSPORIN; ETOPOSIDE; IMMUNOGLOBULIN; METHOTREXATE; METHYLPREDNISOLONE; RITUXIMAB; STEROID; THALIDOMIDE; THYMOCYTE ANTIBODY; UKCCSG 902; UNCLASSIFIED DRUG;

EID: 67651243721     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-009-9285-9     Document Type: Article
Times cited : (21)

References (31)
  • 2
    • 0027937223 scopus 로고
    • Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
    • 10.1016/0092-8674(94)90528-2
    • JM Derry HD Ochs U Francke 1994 Isolation of a novel gene mutated in Wiskott-Aldrich syndrome Cell. 78 635 644 10.1016/0092-8674(94)90528-2
    • (1994) Cell. , vol.78 , pp. 635-644
    • Derry, J.M.1    Ochs, H.D.2    Francke, U.3
  • 3
    • 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
    • 10.1182/blood.V97.6.1598
    • AH Filipovich JV Stone SC Tomany M Ireland C Kollman CJ Pelz JT Casper MJ Cowan JR Edwards A Fasth 2001 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. 97 1598 1603 10.1182/blood.V97.6.1598
    • (2001) Blood. , vol.97 , pp. 1598-1603
    • Filipovich, A.H.1    Stone, J.V.2    Tomany, S.C.3    Ireland, M.4    Kollman, C.5    Pelz, C.J.6    Casper, J.T.7    Cowan, M.J.8    Edwards, J.R.9    Fasth, A.10
  • 4
    • 38049139182 scopus 로고    scopus 로고
    • Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation
    • 10.1182/blood-2007-03-076679
    • H Ozsahin M Cavazzana-Calvo LD Notarangelo A Schulz AJ Thrasher E Mazzolari MA Slatter F Le Deist S Blanche P Veys 2008 Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation Blood. 111 439 445 10.1182/blood-2007-03-076679
    • (2008) Blood. , vol.111 , pp. 439-445
    • Ozsahin, H.1    Cavazzana-Calvo, M.2    Notarangelo, L.D.3    Schulz, A.4    Thrasher, A.J.5    Mazzolari, E.6    Slatter, M.A.7    Le Deist, F.8    Blanche, S.9    Veys, P.10
  • 5
    • 0030804315 scopus 로고    scopus 로고
    • Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype
    • Q Zhu C Watanabe T Liu D Hollenbaugh RM Blaese SB Kanner A Aruffo HD Ochs 1997 Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype Blood. 90 2680 2689 (Pubitemid 27413478)
    • (1997) Blood , vol.90 , Issue.7 , 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
    • 10244243692 scopus 로고    scopus 로고
    • Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation
    • 10.1182/blood-2003-05-1592
    • Y Jin C Mazza JR Christie S Giliani M Fiorini P Mella F Gandellini DM Stewart Q Zhu DL Nelson 2004 Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation Blood. 104 4010 4019 10.1182/blood-2003-05-1592
    • (2004) Blood. , vol.104 , pp. 4010-4019
    • Jin, Y.1    Mazza, C.2    Christie, J.R.3    Giliani, S.4    Fiorini, M.5    Mella, P.6    Gandellini, F.7    Stewart, D.M.8    Zhu, Q.9    Nelson, D.L.10
  • 8
    • 10244225166 scopus 로고    scopus 로고
    • An 11-bp deletion in exon 10 (c1295del11) of WASP responsible for Wiskott Aldrich Syndrome
    • 10.1002/(SICI) 1098-1004(1999) 13:6<507::AID-HUMU21>3.0. CO;2-8
    • SY Chan YF Hui YL Lau 1999 An 11-bp deletion in exon 10 (c1295del11) of WASP responsible for Wiskott Aldrich Syndrome Hum Mutat. 13 507 10.1002/(SICI) 1098-1004(1999) 13:6<507::AID-HUMU21>3.0.CO;2-8
    • (1999) Hum Mutat , vol.13 , pp. 507
    • Chan, S.Y.1    Hui, Y.F.2    Lau, Y.L.3
  • 9
    • 0036676884 scopus 로고    scopus 로고
    • Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome
    • 10.1002/humu.9048
    • KW Chan TL Lee BH Chung X Yang YL Lau 2002 Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome Hum Mutat. 20 151 152 10.1002/humu.9048
    • (2002) Hum Mutat , vol.20 , pp. 151-152
    • Chan, K.W.1    Lee, T.L.2    Chung, B.H.3    Yang, X.4    Lau, Y.L.5
  • 10
    • 2342578052 scopus 로고    scopus 로고
    • Identification of two noval WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome
    • L Jiang Y Xu X Yang 2003 Identification of two noval WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome Chin J Pediatr. 41 590 593
    • (2003) Chin J Pediatr , vol.41 , pp. 590-593
    • Jiang, L.1    Xu, Y.2    Yang, X.3
  • 11
    • 67651228187 scopus 로고    scopus 로고
    • Clinical and genetic diagnosis of Wiskott-Aldrich syndrome (9 case reports)
    • L Jiang KW Chan S Liu 2004 Clinical and genetic diagnosis of Wiskott-Aldrich syndrome (9 case reports) Lin Chuang Er Ke Za Zhi. 22 596 589
    • (2004) Lin Chuang Er Ke Za Zhi. , vol.22 , pp. 596-589
    • Jiang, L.1    Chan, K.W.2    Liu, S.3
  • 12
    • 67651228186 scopus 로고    scopus 로고
    • Clinical features and genetic diagnosis of Wiskott-Aldrich syndrome in a pair of twins
    • Y Zhang Z Dong X Wang S Chen 2004 Clinical features and genetic diagnosis of Wiskott-Aldrich syndrome in a pair of twins Lin Chuang Er Ke Za Zhi. 22 632 633
    • (2004) Lin Chuang Er Ke Za Zhi. , vol.22 , pp. 632-633
    • Zhang, Y.1    Dong, Z.2    Wang, X.3    Chen, S.4
  • 13
    • 37249045870 scopus 로고    scopus 로고
    • Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan
    • 10.1159/000107462
    • WI Lee CY Yang TH Jaing JL Huang YH Chien KW Chang 2008 Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan Int Arch Allergy Immunol. 145 15 23 10.1159/000107462
    • (2008) Int Arch Allergy Immunol , vol.145 , pp. 15-23
    • Lee, W.I.1    Yang, C.Y.2    Jaing, T.H.3    Huang, J.L.4    Chien, Y.H.5    Chang, K.W.6
  • 14
    • 0027254606 scopus 로고
    • Wiskott Aldrich syndrome: An immunodeficiency syndrome not rare in Western Australia
    • C Somerville KD Forsyth 1993 Wiskott Aldrich syndrome: an immunodeficiency syndrome not rare in Western Australia Pediatr Allergy Immunol. 4 65 72 10.1111/j.1399-3038.1993.tb00069.x (Pubitemid 23204338)
    • (1993) Pediatric Allergy and Immunology , vol.4 , Issue.2 , pp. 65-72
    • Somerville, C.1    Forsyth, K.D.2
  • 15
    • 0018932524 scopus 로고
    • The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979)
    • DOI 10.1016/S0022-3476(80)80133-8
    • GS Perry 3rd BD Spector LM Schuman JS Mandel VE Anderson RB McHugh MR Hanson SM Fahlstrom W Krivit JH Kersey 1980 The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979) J Pediatr. 97 72 78 10.1016/S0022-3476(80) 80133-8 (Pubitemid 10033766)
    • (1980) Journal of Pediatrics , vol.97 , Issue.1 , pp. 72-78
    • Perry III, G.S.1    Schuman, L.M.2    Spector, B.D.3
  • 16
    • 33746366793 scopus 로고    scopus 로고
    • Haematopoietic stem cell transplant for Wiskott-Aldrich syndrome
    • new series
    • BHY Chung TL Lee CF Chan 2006 Haematopoietic stem cell transplant for Wiskott-Aldrich syndrome HK J Paediatr. 11 186 190 new series
    • (2006) HK J Paediatr. , vol.11 , pp. 186-190
    • Chung, B.H.Y.1    Lee, T.L.2    Chan, C.F.3
  • 17
    • 0026693064 scopus 로고
    • Defective B-cell and regulatory T-cell function in Wiskott-Aldrich syndrome
    • 10.1007/BF01957573
    • YL Lau BM Jones LC Low SN Wong NK Leung 1992 Defective B-cell and regulatory T-cell function in Wiskott-Aldrich syndrome Eur J Pediatr. 151 680 683 10.1007/BF01957573
    • (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
  • 18
    • 0033669220 scopus 로고    scopus 로고
    • Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain
    • 10.1007/s001090000136
    • SB Rong M Vihinen 2000 Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain J Mol Med. 78 530 537 10.1007/s001090000136
    • (2000) J Mol Med. , vol.78 , pp. 530-537
    • Rong, S.B.1    Vihinen, M.2
  • 19
    • 0033035452 scopus 로고    scopus 로고
    • Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes
    • DOI 10.1002/(SICI)1098-1004(1999)14:1<54::AID-HUMU7>3.0.CO;2-E
    • V Lemahieu JM Gastier U Francke 1999 Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes Hum Mutat. 14 54 66 10.1002/(SICI) 1098-1004(1999) 14:1<54::AID-HUMU7>3.0.CO;2-E (Pubitemid 29309944)
    • (1999) Human Mutation , vol.14 , Issue.1 , pp. 54-66
    • Lemahieu, V.1    Gastier, J.M.2    Francke, U.3
  • 20
    • 23244465352 scopus 로고    scopus 로고
    • Genotype-proteotype linkage in the Wiskott-Aldrich syndrome
    • MI Lutskiy FS Rosen E Remold-O'Donnell 2005 Genotype-proteotype linkage in the Wiskott-Aldrich syndrome J Immunol. 175 1329 1336 (Pubitemid 41095023)
    • (2005) Journal of Immunology , vol.175 , Issue.2 , pp. 1329-1336
    • Lutskiy, M.I.1    Rosen, F.S.2    Remold-O'Donnell, E.3
  • 21
    • 0035932776 scopus 로고    scopus 로고
    • Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome
    • 10.1002/ajmg.1228
    • C Fillat T Espanol M Oset M Ferrando X Estivill V Volpini 2001 Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome Am J Med Genet. 100 116 221 10.1002/ajmg.1228
    • (2001) Am J Med Genet , vol.100 , pp. 116-221
    • Fillat, C.1    Espanol, T.2    Oset, M.3    Ferrando, M.4    Estivill, X.5    Volpini, V.6
  • 22
    • 2942575875 scopus 로고    scopus 로고
    • Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia
    • 10.1080/00313020410001692521
    • HC Bourne S Weston M Prasad E Edkins EM Benson 2004 Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia Pathology. 36 262 264 10.1080/00313020410001692521
    • (2004) Pathology , vol.36 , pp. 262-264
    • Bourne, H.C.1    Weston, S.2    Prasad, M.3    Edkins, E.4    Benson, E.M.5
  • 23
    • 0018936178 scopus 로고
    • Lymphoreticular disorders in primary immunodeficiencies: New findings based on an up-to-date histologic classification of 35 cases
    • DOI 10.1002/1097-0142(19800815)46:4<692::AID-CNCR2820460410>3.0. CO;2-Q
    • G Frizzera J Rosai LP Dehner BD Spector JH Kersey 1980 Lymphoreticular disorders in primary immunodeficiencies: new findings based on an up-to-date histologic classification of 35 cases Cancer. 46 692 699 10.1002/1097- 0142(19800815) 46:4<692::AID-CNCR2820460410>3.0.CO;2-Q (Pubitemid 10034445)
    • (1980) Cancer , vol.46 , Issue.4 , pp. 692-699
    • Frizzera, G.1    Rosai, J.2    Dehner, L.P.3
  • 24
    • 0028116532 scopus 로고
    • A multiinstitutional survey of the Wiskott-Aldrich syndrome
    • DOI 10.1016/S0022-3476(05)82002-5
    • KE Sullivan CA Mullen RM Blaese JA Winkelstein 1994 A multiinstitutional survey of the Wiskott-Aldrich syndrome J Pediatr. 125 876 885 10.1016/S0022-3476(05) 82002-5 (Pubitemid 24379120)
    • (1994) Journal of Pediatrics , vol.125 , pp. 876-885
    • Sullivan, K.E.1    Mullen, C.A.2    Blaese, R.M.3    Winkelstein, J.A.4
  • 25
    • 0037677878 scopus 로고    scopus 로고
    • High incidence of lymphomas in a subgroup of Wiskott-Aldrich syndrome patients
    • 10.1046/j.1365-2141.2003.04310.x
    • A Shcherbina F Candotti FS Rosen E Remold-O'Donnell 2003 High incidence of lymphomas in a subgroup of Wiskott-Aldrich syndrome patients Br J Haematol. 121 529 530 10.1046/j.1365-2141.2003.04310.x
    • (2003) Br J Haematol , vol.121 , pp. 529-530
    • Shcherbina, A.1    Candotti, F.2    Rosen, F.S.3    Remold-O'Donnell, E.4
  • 26
    • 33749247595 scopus 로고    scopus 로고
    • Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan
    • 10.1111/j.1365-2141.2006.06297.x
    • R Kobayashi T Ariga S Nonoyama H Kanegane S Tsuchiya T Morio H Yabe Y Nagatoshi K Kawa K Tabuchi 2006 Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan Br J Haematol. 135 362 366 10.1111/j.1365-2141.2006.06297.x
    • (2006) Br J Haematol , vol.135 , pp. 362-366
    • Kobayashi, R.1    Ariga, T.2    Nonoyama, S.3    Kanegane, H.4    Tsuchiya, S.5    Morio, T.6    Yabe, H.7    Nagatoshi, Y.8    Kawa, K.9    Tabuchi, K.10
  • 27
    • 33750546027 scopus 로고    scopus 로고
    • Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation
    • 10.1038/sj.bmt.1705512
    • SY Pai D DeMartiis C Forino S Cavagnini A Lanfranchi S Giliani D Moratto C Mazza F Porta L Imberti 2006 Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation Bone Marrow Transplant. 38 671 679 10.1038/sj.bmt.1705512
    • (2006) Bone Marrow Transplant. , vol.38 , pp. 671-679
    • Pai, S.Y.1    DeMartiis, D.2    Forino, C.3    Cavagnini, S.4    Lanfranchi, A.5    Giliani, S.6    Moratto, D.7    Mazza, C.8    Porta, F.9    Imberti, L.10
  • 28
    • 38949185099 scopus 로고    scopus 로고
    • Development of lentiviral gene therapy for Wiskott Aldrich syndrome
    • 10.1517/14712598.8.2.181
    • A Galy MG Roncarolo AJ Thrasher 2008 Development of lentiviral gene therapy for Wiskott Aldrich syndrome Expert Opin Biol Ther. 8 181 190 10.1517/14712598.8.2.181
    • (2008) Expert Opin Biol Ther. , vol.8 , pp. 181-190
    • Galy, A.1    Roncarolo, M.G.2    Thrasher, A.J.3
  • 30
    • 67651206473 scopus 로고    scopus 로고
    • Early recognition and intervention of primary immunodeficiency disorders
    • Chinese
    • TX Chen 2006 Early recognition and intervention of primary immunodeficiency disorders Chin J Pediatr. 44 427 430 Chinese
    • (2006) Chin J Pediatr , vol.44 , pp. 427-430
    • Chen, T.X.1
  • 31
    • 67651214720 scopus 로고    scopus 로고
    • Diagnosis and treatment of primary immunodeficiency disorders
    • Chinese
    • XC Wang 2006 Diagnosis and treatment of primary immunodeficiency disorders J Appl Clin Pediatr. 21 1516 1517 Chinese
    • (2006) J Appl Clin Pediatr , vol.21 , pp. 1516-1517
    • Wang, X.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.