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Wiskott-Aldrich syndrome

Hans D Ochs, MD
Section Editor
Jennifer M Puck, MD
Deputy Editor
Elizabeth TePas, MD, MS


Wiskott-Aldrich syndrome (WAS, MIM #301000) is an X-linked disorder caused by mutations in the gene that encodes the Wiskott-Aldrich syndrome protein (WASp). The originally described features of WAS include susceptibility to infections (subsequently associated with adaptive and innate immune deficiency), microthrombocytopenia, and eczema [1,2]. However, there is a wide spectrum of disease severity due to WAS gene mutations, ranging from severe phenotype (classic form) of WAS associated with bacterial and viral infections, severe eczema autoimmunity, and/or malignancy to a milder form characterized by thrombocytopenia and less severe or sometimes absent infections and eczema, called X-linked thrombocytopenia (XLT), to X-linked neutropenia (XLN).

This topic reviews the epidemiology, pathogenesis, clinical manifestations, diagnosis, treatment, and prognosis of WAS, XLT, and XLN.


WAS is a rare syndrome with an estimated incidence of approximately 1:100,000 live births [3]. As an X-linked disorder, it is seen almost exclusively in males. Approximately 50 percent of patients with WAS gene mutations have the WAS phenotype, and the other half have the X-linked thrombocytopenia (XLT) phenotype (figure 1 and figure 2). WAS gene mutations causing X-linked neutropenia (XLN) are very rare, with <12 patients in four families reported to date. (See 'Clinical phenotypes' below.)


Wiskott-Aldrich syndrome protein (WASp) is a member of a distinct family of proteins that link signaling pathways to actin cytoskeleton reorganization by activating actin polymerization mediated by actin-related protein (Arp)-2/3. The WASp family of proteins is characterized by a C-terminal domain containing a common actin monomer-binding motif, a verprolin homology domain, a central acidic region that is capable of binding and activating the Arp-2/3 complex, and an N-terminal domain containing the pleckstrin homology/enabled VASP homology 1 (PH/EVH1) domain and the WASP interacting protein (WIP) binding region (figure 1) [4].

WASp is expressed exclusively in the cytoplasm of hematopoietic cells and plays a crucial role in actin cytoskeleton remodeling [5]. Its absence impacts the formation of the immunologic synapse, the site of interaction between T cells and antigen-presenting cells such as dendritic cells [6] that depends upon the generation of so-called lipid rafts, which provide a platform to recruit crucial molecules to ensure the stability of the immunologic synapse [7]. Thus, T cell function is defective due to abnormal cytoskeletal reorganization, leading to impaired migration and adhesion and insufficient interaction with other cells due to abnormal synapse formation. B cell homeostasis is perturbed due to the abnormalities in T cell function, resulting in the selective depletion of circulating mature B cells, splenic marginal zone precursors, and marginal zone B cells [8,9]. The phenomenon of lymphocyte numbers declining over time is possibly due to accelerated cell death [10].

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Literature review current through: Nov 2017. | This topic last updated: Dec 13, 2017.
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