Highlights & Basics
- Wiskott-Aldrich syndrome (WAS) is an X-linked condition characterized by thrombocytopenia. Small platelet size is the one consistent feature.
- Eczema and recurrent infections are common.
- Autoimmunity is reported in 26% to 72% of cases.
- There is an increased risk of hematologic malignancies.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
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Citations
O'Sullivan E, Kinnon C, Brickell P. Wiskott-Aldrich syndrome protein, WASP. Int J Biochem Cell Biol. 1999;31:383-387.[Abstract]
Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.[Abstract][Full Text]
Burns S, Cory GO, Vainchenker W, et al. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood. 2004;104:3454-3462.[Abstract][Full Text]
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.[Abstract][Full Text]
1. O'Sullivan E, Kinnon C, Brickell P. Wiskott-Aldrich syndrome protein, WASP. Int J Biochem Cell Biol. 1999;31:383-387.[Abstract]
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.[Abstract][Full Text]
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.[Abstract]
4. 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.[Abstract]
5. 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.[Abstract][Full Text]
6. 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.[Abstract][Full Text]
7. 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.[Abstract]
8. 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.[Abstract]
9. Thrasher AJ, Kinnon C. The Wiskott-Aldrich syndrome. Clin Exp Immunol. 2000;120:2-9.[Abstract][Full Text]
10. 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.][Abstract]
11. 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.][Abstract]
12. Online Mendelian Inheritance in Man (OMIM). #301000 Wiskott-Aldrich syndrome. January 2014 [internet publication].[Full Text]
13. Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456-464.[Abstract][Full Text]
14. Burns S, Cory GO, Vainchenker W, et al. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood. 2004;104:3454-3462.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
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.[Abstract][Full Text]
19. American College of Medical Genetics and Genomics. Five things physicians and patients should question. Choosing Wisely, an initiative of the ABIM Foundation. 2021 [internet publication].[Full Text]
20. Joint Council of Allergy, Asthma and Immunology. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Clin Immunol. 2015;136:1186-1205.[Abstract][Full Text]
21. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies: representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999;93:190-197.[Abstract]
22. 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.[Abstract]
23. Worth AJ, Thrasher AJ. Current and emerging treatment options for Wiskott-Aldrich syndrome. Expert Rev Clin Immunol. 2015;11:1015-1032.[Abstract]
24. Centers for Disease Control and Prevention. COVID-19 vaccines for moderately to severely immunocompromised people. April 2022 [internet publication].[Full Text]
25. 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.[Abstract][Full Text]
26. Hacein-Bey Abina S, Gaspar HB, et al. Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome. JAMA. 2015;313:1550-1563.[Abstract]
27. Aiuti A, Biasco L, Scaramuzza S, et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science. 2013;341:1233151.[Abstract][Full Text]
28. US National Library of Medicine. Clinicaltrials.gov ID: NCT01515462. Gene therapy for Wiskott-Aldrich syndrome. February 2021 [internet publication].[Full Text]
29. 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.[Abstract][Full Text]
30. Conley ME, Saragoussi D, Notarangelo L, et al. An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome. Clin Immunol. 2003;109:272-277.[Abstract]
31. Lankester AC, Albert MH, Booth C, et al. EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity. Bone Marrow Transplant. 2021 Sep;56(9):2052-62.[Abstract][Full Text]
32. 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.[Abstract]
33. 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.[Abstract][Full Text]
34. 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.[Abstract][Full Text]
35. 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.[Abstract][Full Text]
36. 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. [Abstract]
