Wiskott-Aldrich Syndrome



Wiskott Aldrich Syndrome is an X-linked recessive immunodeficiency. Wiskott-Aldrich Syndrome is caused by a mutation in the WAS gene, which is an abbreviation for Wiskott-Aldrich Syndrome gene. This mutation in WAS results in problems with cytoskeleton reorganization in leukocytes and platelets. As a result, patients with Wiskott-Aldrich Syndrome develop recurrent infections (immunodeficiency), eczema, and thrombocytopenia.

Key Points

  • Wiskott-Aldrich Syndrome
    • Mutation in WAS gene
      • WAS stands for Wiskott-Aldrich Syndrome
    • Leukocytes and platelets unable to reorganize (actin) cytoskeleton
      • Combined B- and T-cell disorder, with impaired antigen presentation
    • X-linked Recessive
      • Generally seen in male patients
    • Presentation
      • Immunodeficiency
        • Recurrent pyogenic (purulent) infections
        • Increased risk of autoimmune disease and malignancy
      • Thrombocytopenia
        • Excessive bleeding (due to impaired primary hemostasis)
      • Eczema
    • Lab Values (low-yield)
      • Increased IgE and IgA 
      • Normal or decreased IgG