How is Wiskott-Aldrich syndrome treated?

Updated: Apr 28, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD  more...
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The Wiskott-Aldrich syndrome (WAS) disease severity is variable, although somewhat predictable from genotype. [5] Accordingly, treatment strategies range from conservative to early definitive intervention.

Optimally, donor cells should match the patient at all 6 major histocompatibility (MHC) sites because an incomplete match carries a higher risk for complications (particularly graft versus host disease [GVHD]) in Wiskott-Aldrich syndrome compared with patients with most other primary immunodeficiency diseases. Matched-related bone marrow transplantation from a sibling has been successful in almost 90% of patients with Wiskott-Aldrich syndrome, with full T-cell, B-cell, and platelet engraftment.

Because a patient with Wiskott-Aldrich syndrome has some degree of cell-mediated immunity, the patient must receive a preparative regime of immunosuppressive therapy, typically cyclophosphamide, busulfan, and, possibly, total body irradiation, to allow donor cells to engraft. Recently, fludarabine-based myeloablative conditioning regimens have been developed with promising results of good engraftment and low treatment-related toxicities. [42] In utero transplantation is not an option because of the need for pretransplant immunosuppression.

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