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   WASbase
   Variation registry for  Wiskott-Aldrich syndrome (WAS)


WASbase mutation publications

[2010] [2009] [2008] [2007] [2006] [2005] [2004] [1992]

Search PubMed latest citations for WAS mutations

    2010

  • Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families.
    Zhang ZY, Xiao HQ, Jiang LP, Zhou Y, Zhao Q, Yu J, Liu W, Yang XQ, Zhao XD
    Pediatr Allergy Immunol 2010(3): 522-32 [PubMed abstract].

  • X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
    Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, Morio T, Gathmann B, Noordzij JG, Fillat C, Hoenig M, Nathrath M, Meindl A, Pagel P, Wintergerst U, Fischer A, Thrasher AJ, Belohradsky BH, Ochs HD
    Blood 2010(16): 3231-8 [PubMed abstract].

  • Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations.
    Lee WI, Huang JL, Jaing TH, Wu KH, Chien YH, Chang KW
    J Clin Immunol 2010(4): 593-601 [PubMed abstract].

    2009

  • A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.
    Beel K, Cotter MM, Blatny J, Bond J, Lucas G, Green F, Vanduppen V, Leung DW, Rooney S, Smith OP, Rosen MK, Vandenberghe P
    Br J Haematol 2009(1): 120-6 [PubMed abstract].

    2008

  • Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.
    Boztug K, Germeshausen M, Avedillo Díez I, Gulacsy V, Diestelhorst J, Ballmaier M, Welte K, Maródi L, Chernyshova L, Klein C
    Clin Genet 2008(1): 68-74 [PubMed abstract].

    2007

  • Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
    Andreu N, Matamoros N, Escudero A, Fillat C
    Int J Mol Med 2007(5): 777-82 [PubMed abstract].

    2006

  • Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.
    Ancliff PJ, Blundell MP, Cory GO, Calle Y, Worth A, Kempski H, Burns S, Jones GE, Sinclair J, Kinnon C, Hann IM, Gale RE, Linch DC, Thrasher AJ
    Blood 2006(7): 2182-9 [PubMed abstract].

  • A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.
    Du W, Kumaki S, Uchiyama T, Yachie A, Yeng Looi C, Kawai S, Minegishi M, Ramesh N, Geha RS, Sasahara Y, Tsuchiya S
    Hum Mutat 2006(4): 370-5 [PubMed abstract].

    2005

  • Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome.
    Lutskiy MI, Beardsley DS, Rosen FS, Remold-O'Donnell E
    Blood 2005(8): 2815-7 [PubMed abstract].

    2004

  • Two novel mutations of Wiskott-Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling.
    Kim MK, Kim ES, Kim DS, Choi IH, Moon T, Yoon CN, Shin JS
    Biochim Biophys Acta 2004(2): 134-40 [PubMed abstract].

  • Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan.
    Chien YH, Hwu WL, Ariga T, Chang KW, Yang YH, Lin KH, Chiang BL
    J Microbiol Immunol Infect 2004(5): 276-81 [PubMed abstract].

  • Confirming or excluding the diagnosis of Wiskott-Aldrich syndrome in children with thrombocytopenia of an unknown etiology.
    Ariga T, Nakajima M, Yoshida J, Yamato K, Nagatoshi Y, Yanai F, Caviles AP, Nelson DL, Sakiyama Y
    J Pediatr Hematol Oncol 2004(7): 435-40 [PubMed abstract].

    1992

  • Progressive systemic sclerosis complicated with immune thrombocytopenia during D-penicillamine therapy.
    Natsuda H, Matsui Y, Sakauchi M, Kato S, Takemura H, Suzuki H, Kono I, Yamane K, Kashiwagi H
    Intern Med 1992(2): 244-5 [PubMed abstract].