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参考文献

关键文献

O'Sullivan E, Kinnon C, Brickell P. Wiskott-Aldrich syndrome protein, WASP. Int J Biochem Cell Biol. 1999;31:383-387.

Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.

Burns S, Cory GO, Vainchenker W, et al. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood. 2004;104:3454-3462.

Filipovich AH, Stone JV, Tomany SC, et al. 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. 2001;97:1598-1603.

参考文章

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4.  Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.

5.  Lum LG, Tubergen DG, Corash L, et al. Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. N Engl J Med. 1980;302:892-896.

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9.  Perry GS 3rd, Spector BD, Schuman LM, et al. The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr. 1980;97:72-78.

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13.  Online Mendelian Inheritance in Man (OMIM). #301000 Wiskott-Aldrich Syndrome. January 2014. http://omim.org/ (last accessed 16 November 2016).

14.  Burns S, Cory GO, Vainchenker W, et al. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood. 2004;104:3454-3462.

15.  Maillard MH, Cotta-De-Almeida V, Takeshima F, et al. The Wiskott-Aldrich syndrome protein is required for the function of CD4 (+)CD25(+)Foxp3(+) regulatory T cells. J Exp Med. 2007;204:381-391.

16.  Marangoni F, Trifari S, Scaramuzza S, et al. WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells. J Exp Med. 2007;204:369-380.

17.  Rivers E, Worth A, Thrasher AJ, et al. Bleeding and splenectomy in Wiskott-Aldrich syndrome: A single-centre experience. J Allergy Clin Immunol Pract. 2018 Jul 23. pii: S2213-2198(18)30440-9.

18.  Worth AJ, Thrasher AJ. Current and emerging treatment options for Wiskott-Aldrich syndrome. Expert Rev Clin Immunol. 2015;11:1015-1032.

19.  Hacein-Bey Abina S, Gaspar HB, et al. Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. JAMA. 2015;313:1550-1563.

20.  Aiuti A, Biasco L, Scaramuzza S, et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science. 2013;341:1233151.

21.  Dupuis-Girod S, Medioni J, Haddad E, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics. 2003;111:e622-e627.

22.  Filipovich AH, Stone JV, Tomany SC, et al. 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. 2001;97:1598-1603.

23.  Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, et al. 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. 2008;111:439-445.

24.  Moratto D, Giliani S, Bonfim C, et al. Long-term outcome and lineage-specific chimerism in 194 Wiskott-Aldrich syndrome patients treated by hematopoietic cell transplantation between 1980-2009: an international collaborative study. Blood. 2011;118:1675-1684.

25.  Elfeky RA, Furtado-Silva JM, Chiesa R, et al. One hundred percent survival after transplantation of 34 patients with Wiskott-Aldrich syndrome over 20 years. J Allergy Clin Immunol. 2018 Jul 25. pii: S0091-6749(18)31059-5.

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