Wiskott-Aldrich 综合征

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

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

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

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.全文  摘要

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

2. Parolini O, Ressmann G, Haas OA, et al. X-linked Wiskott-Aldrich syndrome in a girl. N Engl J Med. 1998;338:291-295.全文  摘要

3. Andreu N, Pujol-Moix N, Martinez-Lostao L, et al. Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation. Blood Cells Mol Dis. 2003;31:332-337. 摘要

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

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. 摘要

6. Corash L, Shafer B, Blaese RM. Platelet-associated immunoglobulin, platelet size, and the effect of splenectomy in the Wiskott-Aldrich syndrome. Blood. 1985;65:1439-1443.全文  摘要

7. Litzman J, Jones A, Hann I, et al. Intravenous immunoglobulin, splenectomy, and antibiotic prophylaxis in Wiskott-Aldrich syndrome. Arch Dis Child. 1996;75:436-439.全文  摘要

8. Watanabe N, Yoshimi A, Kamachi Y, et al. Wiskott-Aldrich syndrome is an important differential diagnosis in male infants with juvenile myelomonocytic leukemialike features. J Pediatr Hematol Oncol. 2007;29:836-838. 摘要

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. 摘要

10. Thrasher AJ, Kinnon C. The Wiskott-Aldrich syndrome. Clin Exp Immunol. 2000;120:2-9.全文  摘要

11. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78:635-644. [Erratum in: Cell. 1994;79:following 922.] 摘要

12. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;79:following 922. [Erratum for Cell. 1994;78:635-644.] 摘要

13. Online Mendelian Inheritance in Man (OMIM). #301000 Wiskott-Aldrich Syndrome. January 2014 [internet publication].全文

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

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.全文  摘要

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.全文  摘要

17. Sudhakar M, Rikhi R, Loganathan SK, et al. Autoimmunity in Wiskott-Aldrich syndrome: updated perspectives. Appl Clin Genet. 2021 Aug 20;14:363-88.全文  摘要

18. Chiang SCC, Vergamini SM, Husami A, et al. Screening for Wiskott-Aldrich syndrome by flow cytometry. J Allergy Clin Immunol. 2018 Jul;142(1):333-5.e8.全文  摘要

19. 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. 摘要

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

21. Centers for Disease Control and Prevention. COVID-19 vaccines for moderately to severely immunocompromised people. April 2022 [internet publication].全文

22. Burroughs LM, Petrovic A, Brazauskas R, et al. Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. Blood. 2020 Jun 4;135(23):2094-2105.全文  摘要

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

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

25. US National Library of Medicine. Clinicaltrials.gov ID: NCT01515462. Gene therapy for Wiskott-Aldrich syndrome. February 2021 [internet publication].全文

26. Gerrits AJ, Leven EA, Frelinger AL 3rd, et al. Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. Blood. 2015 Sep 10;126(11):1367-78.全文  摘要

27. 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:e622-27. 摘要

28. 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.全文  摘要

29. 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.全文  摘要

30. 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.全文  摘要

31. 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. 摘要