Wiskott-Aldrich syndrome

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  • Primary immunodeficiency
  • X-linked recessive defect in the WASp gene located at xP 11.22-23
  • Characterized by eczema, thrombocytopenia (causing bleeding), and immunodeficiency
    • Immunodeficiency is characterized by recurrent infections with encapsulated organisms and recurrent sinopulmonary infections
    • Myeloid cells have impaired phagocytosis and chemotaxis; also have issues with T cell and B cell dysfunction