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Review
. 2014 Apr 3:7:55-66.
doi: 10.2147/TACG.S58444. eCollection 2014.

Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments

David Buchbinder  1 , Diane J Nugent  1 , Alexandra H Fillipovich  2
Affiliations
Review

Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments

David Buchbinder et al. Appl Clin Genet. .

Abstract

Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder characterized by the triad of eczema, thrombocytopenia, and severe and often recurrent infections. Despite the rarity of this disorder, our understanding of the molecular and cellular pathogenesis of WAS has continued to increase. Advances in the use of diagnostic tools, the provision of supportive care, and improvements in allogeneic hematopoietic stem cell transplantation have significantly reduced the morbidity and mortality associated with this disorder. Exciting advancements in the care of patients with WAS have also occurred, including the successful application of autologous gene-modified hematopoietic stem cell transplantation.

Keywords: Wiskott–Aldrich syndrome; gene therapy; hematopoietic stem cell transplantation; primary immunodeficiency.

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Figures

Figure 1
Figure 1
Clues to the diagnosis of wiskott–Aldrich syndrome. Abbreviation: Ig, immunoglobulin.
See this image and copyright information in PMC

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