Wiskott-Aldrich syndrome
Log in to starLast updated 2mo ago
Log in to add personal notes on this page.
A male infant has eczema, thrombocytopenia with small platelets, and recurrent bacterial and viral infections. IgM is low but IgA and IgE are elevated.
XLR; WAS (WASP)
- Classic triad: Eczema, thrombocytopenia (small platelets), immunodeficiency
- Recurrent infections (bacterial, viral, opportunistic)
- Autoimmune disease
- Lymphoma risk
- IgM low, IgA and IgE elevated
- CBC with smear: thrombocytopenia with characteristically small platelets (low mean platelet volume)
- Immunoglobulin panel: low IgM with elevated IgA and IgE; poor antibody response to polysaccharide antigens
- Flow cytometry shows reduced or absent WASP protein in leukocytes
- Confirmatory molecular testing of WAS; carrier testing for at-risk female relatives
- HSCT, gene therapy
"W" looks like actin filaments under the microscope: WASp (Wiskott-Aldrich syndrome protein) is required for actin cytoskeleton reorganization. The "Akttin" issue in Wiskott-Aldrich prevents WBCs and platelets from reorganizing their cytoskeleton, leading to defective antigen presentation.
WAS = triad: With eczema, Absent adequate platelets (thrombocytopenia with small platelets), Susceptibility to infections (immunodeficiency). IgM is low, IgA and IgE are elevated.