Wiskott–Aldrich Syndrome (WAS)- XLR, WASP gene, encodes WAS protein (controls assembly of actin filaments)
- Thrombocytopenia and platelet dysfunction (since birth) → petechiae and ecchymoses of skin, epistaxis, melena, hematemesis, hematuria
- Atopic dermatitis (face, scalp, flexures), excoriated areas with crust/petechiae, recurrent bacterial infections
- Hepatosplenomegaly, lymphadenopathy, ↑ lymphoma (non-Hodgkin’s lymphoma)
- Death from infections > hemorrhage > malignancy
- Treatment: bone marrow transplantation
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