Article Sections

Introduction

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder that occurs due to an X-linked recessive mutation in the WAS gene.  Classically, patients develop combined cellular and humoral immunodeficiency, microthrombocytopenia, and eczema.

Pathogenesis and clinical presentation

WAS occurs due to an X-linked recessive mutation in the WAS gene, which is expressed exclusively in hematopoietic cells.  The WAS gene encodes a protein (WAS protein) involved in cell structure and cell-to-cell interactions.  Specifically, the WAS protein induces actin polymerization that allows T-helper cells (CD4+) to interact with antigen-presenting cells (eg, macrophages).  Without this interaction, T-helper cells (CD4+) cannot recognize the antigen and coordinate the adaptive immune response by stimulating B-cell proliferation and differentiation into antibody-producing plasma cells and memory cells.

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Tables

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