Wiskott-Aldrich syndrome WAS

• Facts:
  X linked recessive, decreased platelet production
  Defective gene encoding for WAS protein (WASP)
• History / PE:
  Eczema
  Thrombocytopenia (bleeding from circumcisions)
  Recurrent infections w/ encapsulated organisms
• Diagnosis:
  Low IgM (high IgA, IgE)
  Small platelets
  Poor antibody response to polysaccaride antigens
  Moderately reduced platelets and T cells
• Differential Diagnosis:
  1) Chediak-Higashi syndrome (oculocutaneous albinism)
  2) Leukocyte adhesion defect (delayed separation of umbilical cord)
  3) Hyper-IgE syndrome (dental abnormalities)
  4) Chronic granulomatous disease (positive NBT)