Which clinical history findings are characteristic of Wiskott-Aldrich syndrome (WAS)?

Updated: Aug 11, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive disorder resulting from mutation in a gene that encodes for the WAS protein (WASP). WASP is a key regulator of actin polymerization in hematopoietic cells. Structural studies of the WASP protein have identified 5 domains that are involved in signaling, cell locomotion, and immune synapse formation. WASP regulates nuclear factor kappaB (NF-KB) activity by promoting the nuclear translocation of NF-KB. In addition, WASP plays not only an important role in lymphoid development, but also in the maturation of myeloid monocytic cells.

Clinically, the syndrome is characterized by the triad of thrombocytopenic purpura, eczema, and increased susceptibility to infections. Symptoms begin in the first year of life, with recurrent upper and lower respiratory tract infections with encapsulated bacteria. P jirovecii pneumonia and herpes infections become a problem later in life

Most patients die of serious infections at approximately age 11 years. If these patients survive to adulthood, they are at high risk for autoimmune diseases, such as cytopenias and vasculitis, and for cancer, particularly non-Hodgkin lymphomas.

The discovery of the Wiskott-Aldrich gene made possible the identification of carriers of the gene in families of WAS patients with an incomplete syndrome. Some of these patients have only the thrombocytopenia (X-linked thrombocytopenia) with no skin involvement or immunodeficiency despite inheriting the same gene mutation.


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