View More View Less
  • 1 Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen Nagyerdei krt. 98. Pf. 73. 4032
Restricted access

A Wiskott–Aldrich-szindróma ritka, X-kromoszómához kötött, recesszív öröklődésmenetű, primer immundefektus, amelyet microthrombocytopenia, ekcéma és visszatérő fertőzések jellemeznek. A közlemény részletesen taglalja a Wiskott–Aldrich-szindróma molekuláris patológiáját, diagnosztikáját és klinikumát.

  • Jin, Y., Mazza, C., Christie, J. R. és mtsai: Mutations of the Wiskott–Aldrich syndrome protein (WASP): hotspots, effect on transcription, and translation and phenotype correlation. Blood, 2004, 104 , 4010–4019.

    Christie J. R. , 'Mutations of the Wiskott–Aldrich syndrome protein (WASP): hotspots, effect on transcription, and translation and phenotype correlation ' (2004 ) 104 Blood : 4010 -4019.

    • Search Google Scholar
  • Wiskott, A.: Familiärer, angeborener Morbus Werlhoffi? Monatsschrift für Kinderheilkunde, 1937, 68 , 212–216.

    Wiskott A. , 'Familiärer, angeborener Morbus Werlhoffi? ' (1937 ) 68 Monatsschrift für Kinderheilkunde : 212 -216.

    • Search Google Scholar
  • Aldrich, R. A., Steinberg, A. G., Campbell, D. C.: Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics, 1954, 13 , 133–138.

    Campbell D. C. , 'Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea ' (1954 ) 13 Pediatrics : 133 -138.

    • Search Google Scholar
  • Villa, A., Notarangelo, L., Macchi, P. és mtsai: X-linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat. Genet., 1995, 9 , 414–417.

    Macchi P. , 'X-linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene ' (1995 ) 9 Nat. Genet. : 414 -417.

    • Search Google Scholar
  • Notarangelo, L. D., Mazza, C., Giliani, S. és mtsai: Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood, 2002, 99 , 2268–2269.

    Giliani S. , 'Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia ' (2002 ) 99 Blood : 2268 -2269.

    • Search Google Scholar
  • Notarangelo, L. D., Miao, C. H. és Ochs, H. D.: Wiskott–Aldrich syndrome. Curr. Opin. Hematol., 2008, 15 , 30–36.

    Ochs H. D. , 'Wiskott–Aldrich syndrome ' (2008 ) 15 Curr. Opin. Hematol. : 30 -36.

  • Alapi, K.: Wiskott–Aldrich szindróma génjének mutációja congenitális thrombocytopeniás csecsemőben. Gyermekgyógyászat, 2005, 56 , 51–55.

    Alapi K. , 'Wiskott–Aldrich szindróma génjének mutációja congenitális thrombocytopeniás csecsemőben ' (2005 ) 56 Gyermekgyógyászat : 51 -55.

    • Search Google Scholar
  • Devriend, K., Kim, A. S., Mathijs, G. és mtsai: Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat. Genet., 2001, 27 , 313–316.

    Mathijs G. , 'Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia ' (2001 ) 27 Nat. Genet. : 313 -316.

    • Search Google Scholar
  • Ochs, H. D.: The Wiskott–Aldrich syndrome. Semin. Hematol., 1998, 35 , 332–345.

    Ochs H. D. , 'The Wiskott–Aldrich syndrome ' (1998 ) 35 Semin. Hematol. : 332 -345.

  • Derry, J. M., Ochs, H. D., Francke, U.: Isolation of a novel gene mutated in Wiskott–Aldrich syndrome. Cell, 1994, 76 , 635–644.

    Francke U. , 'Isolation of a novel gene mutated in Wiskott–Aldrich syndrome ' (1994 ) 76 Cell : 635 -644.

    • Search Google Scholar
  • Kwan, S. P., Lehner, T., Hagemann, T. és mtsai: Localization of the gene for Wiskott–Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3. Genomics, 1991, 10 , 29–33.

    Hagemann T. , 'Localization of the gene for Wiskott–Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3 ' (1991 ) 10 Genomics : 29 -33.

    • Search Google Scholar
  • Zhu, Q., Watanabe, C., Liu, T. és mtsai: Wiskott–Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood, 1997, 90 , 2680–2689.

    Liu T. , 'Wiskott–Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype ' (1997 ) 90 Blood : 2680 -2689.

    • Search Google Scholar
  • Burns, S., Cory, G. O., Vainchenker, W. és mtsa: Mechanisms of WASp-mediated hematologic and immunologic disease. Blood, 2004, 104 , 3454–3461.

    Vainchenker W. , 'Mechanisms of WASp-mediated hematologic and immunologic disease ' (2004 ) 104 Blood : 3454 -3461.

    • Search Google Scholar
  • Imai, K., Zhu, Y., Jin, Y. és mtsai: Clinical course of patients with WASP gene mutations. Blood, 2004, 103 , 456–464.

    Jin Y. , 'Clinical course of patients with WASP gene mutations ' (2004 ) 103 Blood : 456 -464.

    • Search Google Scholar
  • Ochs, H. D.: The Wiskott–Aldrich syndrome. Isr. Med. Assoc. J., 2002, 4 , 379–384.

    Ochs H. D. , 'The Wiskott–Aldrich syndrome ' (2002 ) 4 Isr. Med. Assoc. J. : 379 -384.

  • Wada, T., Konno, A., Schurman, S. H.: Second-site mutation in the Wiskott–Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J. Clin. Invest., 2003, 111 , 1389–1397.

    Schurman S. H. , 'Second-site mutation in the Wiskott–Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings ' (2003 ) 111 J. Clin. Invest. : 1389 -1397.

    • Search Google Scholar
  • Ancliff, P. J., Blundell, M. P., Cory, G. O. és mtsai: Two novel activating mutations in the Wiskott–Aldrich syndrome protein result in congenital neutropenia. Blood, 2006, 108 , 2182–2189.

    Cory G. O. , 'Two novel activating mutations in the Wiskott–Aldrich syndrome protein result in congenital neutropenia ' (2006 ) 108 Blood : 2182 -2189.

    • Search Google Scholar
  • Boztug, K., Dewey, R. A., Klein, C.: Development of hematopoietic stem cell gene therapy for Wiskott–Aldrich syndrome. Curr. Opin. Mol. Ther., 2006, 8 , 390–395.

    Klein C. , 'Development of hematopoietic stem cell gene therapy for Wiskott–Aldrich syndrome ' (2006 ) 8 Curr. Opin. Mol. Ther. : 390 -395.

    • Search Google Scholar
  • Calle, Y., Jones, G. E., Jagger, C. és mtsai: WASp deficiency in mice results in failure to form osteoclast sealing zones and defects in bone resorption. Blood, 2004, 103 , 3552–3561.

    Jagger C. , 'WASp deficiency in mice results in failure to form osteoclast sealing zones and defects in bone resorption ' (2004 ) 103 Blood : 3552 -3561.

    • Search Google Scholar
  • Ochs, H. D., Notarangelo, L. D.: Structure and function of the Wiskott–Aldrich syndrome protein. Curr. Opin. Hematol., 2005, 12 , 284–291.

    Notarangelo L. D. , 'Structure and function of the Wiskott–Aldrich syndrome protein ' (2005 ) 12 Curr. Opin. Hematol. : 284 -291.

    • Search Google Scholar
  • Lacout, C., Haddad, E., Sabri, S. és mtsai: A defect in hematopoietic stem cell migration explains the nonrandom X-chromosome inactivation in carriers of Wiskott–Aldrich syndrome. Blood, 2003, 102 , 1282–1289.

    Sabri S. , 'A defect in hematopoietic stem cell migration explains the nonrandom X-chromosome inactivation in carriers of Wiskott–Aldrich syndrome ' (2003 ) 102 Blood : 1282 -1289.

    • Search Google Scholar
  • Westerberg, L., Larsson, M., Hardy, S. J. és mtsai: Wiskott–Aldrich syndrome protein deficiency leads to reduce B-cell adhesion, migration, and homing, and a delayed humoral immune response. Blood, 2005, 105 , 1144–1152.

    Hardy S. J. , 'Wiskott–Aldrich syndrome protein deficiency leads to reduce B-cell adhesion, migration, and homing, and a delayed humoral immune response ' (2005 ) 105 Blood : 1144 -1152.

    • Search Google Scholar
  • Gismondi, A., Cifaldi, L., Mazza, C. és mtsai: Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect. Blood, 2004, 104 , 436–443.

    Mazza C. , 'Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect ' (2004 ) 104 Blood : 436 -443.

    • Search Google Scholar
  • De Noronha, S., Hardy, S., Sinclair, O. J. és mtsai: Impaired dendritic-cell homing in vivo in the absence of Wiskott–Aldrich syndrome protein. Blood, 2005, 105 , 1590–1597.

    Sinclair O. J. , 'Impaired dendritic-cell homing in vivo in the absence of Wiskott–Aldrich syndrome protein ' (2005 ) 105 Blood : 1590 -1597.

    • Search Google Scholar
  • Cines, D. B, Bussel, J. B., McMillan, R. B. és mtsa: Congenital and acquired thrombocytopenia. Hematology, 2004, 1 , 390–406.

    McMillan R. B. , 'Congenital and acquired thrombocytopenia ' (2004 ) 1 Hematology : 390 -406.

  • Longhurst, H. J., Taussig, D., Haque, T. és mtsai: Non-myeloablative bone marrow transplantation in an adult with Wiskott–Aldrich syndrome. Br. J. Haematol., 2002, 116 , 497–499.

    Haque T. , 'Non-myeloablative bone marrow transplantation in an adult with Wiskott–Aldrich syndrome ' (2002 ) 116 Br. J. Haematol. : 497 -499.

    • Search Google Scholar
  • Alapi, K., Erdős, M., Török, O. és mtsa: Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins. Clin. Chem., 2006, 52 , 901–903.

    Török O. , 'Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins ' (2006 ) 52 Clin. Chem. : 901 -903.

    • Search Google Scholar
All Time Past Year Past 30 Days
Abstract Views 194 194 30
Full Text Views 19 7 0
PDF Downloads 7 5 0