What is the role of genetics in the etiology of Wiskott-Aldrich syndrome?

Updated: Apr 28, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD  more...
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The gene for the Wiskott-Aldrich syndrome protein (WASp) is localized to Xp11.22-23 and consists of 12 exons that encode a 502 amino acid (53 kD) protein. WASp is a cytosolic protein expressed on all hematopoietic cell lineages and is essential for normal antibody function, T-cell responses, and platelet production. [10] It also regulates actin polymerization, transcription, and a selective, post-transcriptional role in Th2 effector function. [11] About 300 mutations have been found throughout the gene and can include base pair substitutions, insertions, and deletions. These mutations can result in different clinical phenotypes, including classic Wiskott-Aldrich syndrome, X-linked thrombocytopenia, intermittent thrombocytopenia, and neutropenia. [12, 13]

The type of specific mutation, its location within the gene, and its effect on protein expression appear to determine an individual patient's clinical phenotype. [14]

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