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