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湿疹-血小板减少紫癜综合征1例报告及文献复习 被引量:5

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出处 《中国当代儿科杂志》 CAS CSCD 2006年第6期499-501,共3页 Chinese Journal of Contemporary Pediatrics
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参考文献13

  • 1Andreu N,Pujol-Moix N,Marinez-Lostao L,Oset M,Muniz-Diaz E,Estivill X,et al.Wiskott-Aldrich syndrome in a fcmalc with skewed X-chromosome inactivation[J].Blood Cells Mol Dis,2003,31 (3):332-327.
  • 2Sullivan KE.Recent advances in our understanding of WiskottAldrich syndrome[J].Curr Opin Hematol,1999,6(1):8-14.
  • 3蒋利萍,徐酉华,杨锡强,刘恩梅,王莉佳,刘宇隆,陈冠荣.两种新型Wiskott-Aldrich综合征蛋白基因突变的鉴定[J].中华儿科杂志,2003,41(8):590-593. 被引量:6
  • 4Symons M,Derry JM,Karlak B,Jiang S,Lemahieu V,Mccormick F,Francke U,Abo A.Wiskott-Aldrich syndrome protein,a novel effector for the GTPase CDCA2IIs,is implicatel in actin polymerzation[J].Cell,1996,84(5):723-734.
  • 5Kolluri R,Tolias KF,Carpenter CL,Rosen FS,Kirchhausen T.Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase CDCA2[J].Proc Acad Sci USA,1996(11):5615-5618.
  • 6朱敬先,林元珠,王曙霞.Wiskott-Aldrich综合征1例[J].中国皮肤性病学杂志,2004,18(4):244-245. 被引量:3
  • 7Saurat JH.Eczema in primary immune-deficiencies.Clues to the pathogenesis of atopic dermatitis with special reference to the Wiskott-Aldrich syndrome[J].Acta Derm Venereol Suppl (Stockh),1985,114:125-128.
  • 8Schurman SH,Candoti F.Autoimmunity in Wiskott-Aldrich syndrome[J].Curr Opin Rheumatol,2003,15(4):446-453.
  • 9Ariga T,Nakajima M,Yoshida J,Yamato K,Nagatoshi Y,Yanai F,et al.Confirming or excluding the diagnosis of Wiskott-Aldrich syndrome in children with thrombocytopenia of an unknown etiology[J].J Pediatr Hematol Oncol,2004,26(7):435-440.
  • 10Litzman J,Jones A,Hann I,Chapel H,Strobel S,Morgan G.Intravenous immunoglobulin,splenectomy,and antibiotic prophylaxis in Wiskott-Aldrich syndrome[J].Arch Dis Child,1996,5(5):436-439.

二级参考文献13

  • 1Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiakott-Aldrich syndrome. Cell. 1994.78: 635-644.
  • 2Lemahieu V, Gastler J-M, 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.
  • 3Sasahara Y, Kawai S, Kumaki S, et al. Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome. Eur J Pediatr, 2000, 159: 23-30.
  • 4Fillat c, Espanol T, Oset M, et al. Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. Am J Meal Genet, 2001, 100:116-121.
  • 5Shcherbina A, Bretscher A, Rosen 1;B, et al. The cytoskeletal linker protein moesin: decreased levels in Wiskott-Aldrich syndromeplatelets and identification of a cleavage pathway in normal platelets.Br J Haematol, 1999, 106: 216-223.
  • 6Schwartz M, Bekassy A, Donner M, et al. Mutation spectrum inpatients with Wiskott-Aldrich syndrome and X-linkedthrombocytopenia: identification of twelve different mutations in the WASP gene. Thromb Haemost, 1996, 75: 546-550.
  • 7赵辩.临床皮肤病学[M].南京:江苏科学技术出版社,2001.159-772.
  • 8Palenzuela G,Bernard F,Gardiner G,et al.Malignant Bcell non-hodgkin's lymphoma of the larynx in children with Wiskott-Aldrich syndrome[J].Int J Pediatr Otorhinolaryngol,2003,67(9):989-993.
  • 9Andreu N,Pujol-Moix N,Martinez-Lostao L,et al.Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation[J].Blood Cells Mol Dis,2003,31(3):332-327.
  • 10Imai K,Morio T,Zhu Y,et al.Clinical course of patients with WASP gene mutations[J].Blood,2004,103(2):456-464.

共引文献8

同被引文献38

  • 1谷志勇,舒小红.Wiskott-Adrich综合征1例[J].实用儿科临床杂志,2005,20(1):83-83. 被引量:1
  • 2张玉珏,董治亚,王晓川,陈舜年.Wiskott-Aldrich综合征孪生双胎临床及基因突变检测[J].临床儿科杂志,2004,22(9):632-633. 被引量:2
  • 3姚颖,托娅,赵艳红.Wiskott-Aldrich综合征1例[J].中国误诊学杂志,2006,6(22):4474-4474. 被引量:1
  • 4Krisiukeniene A, Sitkanskiene B, Sakalauskas R. W iskott- Aldrich syndrome: the possibilities of diagnosis and treatment[ J]. Medicina, 2003, 39(3): 211-216
  • 5胡亚美,江载芳.诸福堂实用儿科学[M].第7版.北京:人民卫生出版社,2002.594-596.
  • 6Proust A,Guillet B,Pellier I,et al.Recurrent V75M mutation within the Wiskott-Aldrich syndrome protein:description of a homozygous female patient[J].Eur.J.Haematol,2005,75 (1):54-59.
  • 7Krisiukeniene A,Sitkauskiene B,Sakalauskas R.WiskottAldrich syndrome:the possibilities of diagnosis and treatment[J].Medicina,2003,39(3):211-216.
  • 8Proust A, Guillet B, Pellier I, et al. Recurrent V75M mutation within the Wiskott - Aldrich syndrome protein: Description of a homozygous female patient[J]. Eur J Haematol, 2005,75 (1) : 54 - 59.
  • 9Braun C J, Boztug K, Paruzynski A, et al. Gene therapy for Wiskott-Aldrich syndrome-long-term efficacy and genotoxicity [J]. Sci Transl Med, 2014, 6(227):227 ra33.
  • 10Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome [J]. J Allergy Clin Immunol, 2006, 117(4): 725-738; quiz 739.

引证文献5

二级引证文献13

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