Wiskott-Aldrich $

Wiskott-Aldrich syndrome causes primary immunodeficiency due to a combined B- and T-cell dysfunction.

• Mutation in WASp gene;
• leukocytes and platelets unable to reorganize actin cytoskeleton --> defective antigen presentation.
• X-linked recessive.

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Triad: (T I E)

Thrombocytopenia (>90%) + Recurrent (pyogenic) Bacterial Infections (Strep pneumoniae, N. meningitidis, and H. influenzae) + Eczema (~50%)

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• increased risk of autoimmune disease and malignancy
• First notice - often prolonged bleeding from circumcision
• Decreased platelet production is the primary pathophysiologic cause of thrombocytopenia in WAS
• moderately reduced number of T cells and platelets
• low IgM levels, high IgA and IgE levels, poor antibody responses to polysaccharide antigens