Wiskott-Aldrich syndrome and X-linked thrombocytopenia

The onset of disease is early in childhood with severe eczema, wich has an atypical distribution compared to atopic eczema. The clinical presentation of the Wiskott-Aldrich Syndrome (WAS) varies from patient to patient. Some patients present with all three classic manifestations, including low platelets and bleeding, immunodeficiency and infection, and eczema. Other patients present just with low platelet counts (thrombocytopenia) and bleeding. Patients have some characteristic hemorrhagic signs (purpura, petechiae, ecchymoses, epistaxis, bloody diarrhea). Infections develop gradually and affect the respiratory tract (bronchial, pulmonary, ENT) and are bacterial. Autoimmunity is presented by vasculitis and glomerulonephritis.

Therapeutic options

  • Intravenous immunoglobulins should be used if recurrent bacterial infections are a problem. Good management of infections can lower the risk of complications of the disease like lymphoma and tumors. Splenectomy may be beneficial for thrombocytopenia. Bone-marrow transplant cures all the features of the disease.
  • Wiskott-Aldrich syndrome, eMedicine

Research programs, clinical trials