Dermatologic Manifestations of Wiskott-Aldrich Syndrome Workup
- Author: Akimichi Morita, MD, PhD; Chief Editor: Dirk M Elston, MD more...
In Wiskott-Aldrich syndrome WAS), thrombocytopenia is persistent in the range of 1,000-80,000 platelets/µL. The platelets are small and fail to aggregate normally. Their survival is shortened. No antiplatelet antibodies can be detected.
Blood analysis shows Coombs-positive hemolytic anemia, leukocytopenia, lymphopenia, and eosinophilia.
Total serum gammaglobulin levels are usually in the reference range. The immunoglobulin M level is low, but immunoglobulin A, IgE, and immunoglobulin D levels are usually elevated. The immunoglobulin G level is in the reference range in almost all cases. This distinctive immunoglobulin pattern may not be present until the patient is several years of age.
The number of T cells and responses to mitogens in vitro may be normal in early life but often decreases in older age.
Natural killer cell–mediated cytotoxicity is deficient.
CD43 expression on the surface of lymphocytes is low. This finding can be detected by flow cytometry or western blot analysis.
The expression of WAS protein from peripheral blood mononuclear cells by flow cytometry or Western blot analysis help in making the diagnosis prior to mutational analysis. The level of WAS protein correlates with the phenotype of affected patient and the clinical course.
After the above screening methods, the mutational analysis of the WASP gene is important to make a definitive diagnosis.
Delayed hypersensitivity skin testing results, such as Candida and purified protein derivative of tuberculin, are reduced.
A lesional skin specimen from a Wiskott-Aldrich syndrome patient shows findings similar to those of atopic dermatitis.
Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994 Aug 26. 78(4):635-44. [Medline].
Guillén-Rocha N, López-Rocha E, Danielian S, Segura-Méndez N, López-González L, Lugo-Reyes SO. [Wiskott-Aldrich syndrome. A report of a new mutation]. Rev Alerg Mex. 2014 Jul-Sep. 61(3):219-23. [Medline].
Perry GS 3rd, Spector BD, Schuman LM, et al. The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr. 1980 Jul. 97(1):72-8. [Medline].
Conley ME, Wang WC, Parolini O, Shapiro DN, Campana D, Siminovitch KA. Atypical Wiskott-Aldrich syndrome in a girl. Blood. 1992 Sep 1. 80(5):1264-9. [Medline].
Silvin C, Belisle B, Abo A. A role for Wiskott-Aldrich syndrome protein in T-cell receptor-mediated transcriptional activation independent of actin polymerization. J Biol Chem. 2001 Jun 15. 276(24):21450-7. [Medline].
Pulecio J, Tagliani E, Scholer A, et al. Expression of Wiskott-Aldrich syndrome protein in dendritic cells regulates synapse formation and activation of naive CD8+ T cells. J Immunol. 2008 Jul 15. 181(2):1135-42. [Medline].
Jia D, Gomez TS, Metlagel Z, Umetani J, Otwinowski Z, Rosen MK, et al. WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes. Proc Natl Acad Sci U S A. 2010 Jun 8. 107(23):10442-7. [Medline]. [Full Text].
Yamada M, Ariga T, Kawamura N, et al. Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells. J Immunol. 2000 Jul 15. 165(2):1119-22. [Medline].
Sellars WA, South MA. Wiskott-Aldrich syndrome with 18-year survival. Treatment with transfer factor. Am J Dis Child. 1975 May. 129(5):622-7. [Medline].
Mullen CA, Anderson KD, Blaese RM. Splenectomy and/or bone marrow transplantation in the management of the Wiskott-Aldrich syndrome: long-term follow-up of 62 cases. Blood. 1993 Nov 15. 82(10):2961-6. [Medline].
Dupre L, Marangoni F, Scaramuzza S, et al. Efficacy of gene therapy for Wiskott-Aldrich syndrome using a WAS promoter/cDNA-containing lentiviral vector and nonlethal irradiation. Hum Gene Ther. 2006 Mar. 17(3):303-13. [Medline].
Corash L, Shafer B, Blaese RM. Platelet-associated immunoglobulin, platelet size, and the effect of splenectomy in the Wiskott-Aldrich syndrome. Blood. 1985 Jun. 65(6):1439-43. [Medline].
Syrigos KN, Makrilia N, Neidhart J, Moutsos M, Tsimpoukis S, Kiagia M, et al. Prolonged survival after splenectomy in Wiskott-Aldrich syndrome: a case report. Ital J Pediatr. 2011 Sep 10. 37:42. [Medline]. [Full Text].
Cotelingam JD, Witebsky FG, Hsu SM, Blaese RM, Jaffe ES. Malignant lymphoma in patients with the Wiskott-Aldrich syndrome. Cancer Invest. 1985. 3(6):515-22. [Medline].
Notarangelo LD, Mori L. Wiskott-Aldrich syndrome: another piece in the puzzle. Clin Exp Immunol. 2005 Feb. 139(2):173-5. [Medline].
Tsuji Y, Imai K, Kajiwara M, et al. Hematopoietic stem cell transplantation for 30 patients with primary immunodeficiency diseases: 20 years experience of a single team. Bone Marrow Transplant. 2006 Mar. 37(5):469-77. [Medline].