From the Research
In Wiskott-Aldrich syndrome (WAS), immunoglobulin levels typically show elevated IgA and IgE, normal to elevated IgG, and decreased IgM, as evidenced by studies such as 1 and 2. This pattern reflects the complex immune dysregulation characteristic of this X-linked primary immunodeficiency. The syndrome affects the WAS protein (WASP), which is crucial for cytoskeletal organization in hematopoietic cells, leading to defective lymphocyte function.
Key Immunoglobulin Level Findings:
- Elevated IgA levels
- Normal to elevated IgG levels
- Decreased IgM levels The immunoglobulin abnormalities result from impaired B-cell function and dysregulated isotype switching. Patients often have poor antibody responses to polysaccharide antigens despite having normal or elevated total IgG levels.
Clinical Implications:
- Recurrent infections
- Eczema
- Thrombocytopenia with small platelets This immunoglobulin profile contributes to the clinical manifestations of WAS. Treatment focuses on managing infections with antibiotics, using immunoglobulin replacement therapy, and considering hematopoietic stem cell transplantation as a potentially curative option for severe cases, as discussed in 3 and 4. Regular monitoring of immunoglobulin levels helps guide therapy and assess disease progression.