Diseases & Conditions
Wiskott-Aldrich syndrome is a hereditary immunodeficiency disorder characterized by abnormal antibody (immunoglobulin) production, T-cell (lymphocyte) malfunction, a low platelet count, and eczema.
Wiskott-Aldrich syndrome affects only boys. It results from a mutation in a gene that codes for a protein needed by T and B cells to function. Thus, these cells malfunction. B cells do not produce immunoglobulins normally. Platelets (cell particles that help blood clot) are small and malformed. The spleen removes and destroys them, causing the platelet count to be low.
Because the number of platelets is low, bleeding problems, usually bloody diarrhea, may be the first symptom. Eczema also develops at an early age. Susceptibility to infections, particularly of the respiratory tract, is increased because immunoglobulin levels are low and T cells malfunction. The risk of developing cancers such as lymphoma and leukemia is increased.
Blood tests help doctors diagnose the disorder. The total number of white blood cells and the percentages of the different types are determined, as is the number of platelets. Platelets are examined to check for abnormalities. Levels of immunoglobulins are measured. Doctors also determine how well the patients make antibodies in response to vaccines and other substances that usually trigger an immune response (antigens). Genetic testing may be done to identify the mutation.
Stem cell transplantation is necessary to preserve life. Without it, most boys with this disorder die by age 15. Surgical removal of the spleen may relieve the bleeding problems. Antibiotics are given continuously to prevent infections, and immune globulin is given to provide the missing antibodies.
Last full review/revision September 2008 by Rebecca H. Buckley, MD
Source: The Merck Manual Home Edition