Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome
Updated: 08/17/2020
© Jun Wang, MD, PhD
General features
- X-linked recessive
Clinical presentations
- Triad: recurrent bacterial sinopulmonary infections, eczema and bleeding diathesis
Genetic abnormality
- Mutation of WASp
Pathogenesis
- Actin polymerization defects in hematopoietic cells, resulting in defective antibody production, T cell response and platelet production
Laboratory findings
- Thrombocytopenia
- Platelet dysfunction
Managements
- Treat infections
- Transfusion
- Bone marrow transplantation
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