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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 on the X (sex) chromosome. This gene 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 viral and bacterial 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) and autoimmune disorders (such as hemolytic anemia, inflammatory bowel disease, and vasculitis) 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. Levels of immunoglobulins are measured. Doctors also determine how well the person produces antibodies in response to vaccines and other substances that usually trigger an immune response (antigens) and how well T cells functioning. Genetic testing may be done to identify the mutation and confirm the diagnosis.
Stem cell transplantation is necessary to preserve life. Without it, most boys with this disorder die by age 15.
Antibiotics are given continuously to prevent infections, and immune globulin (antibodies obtained from the blood of people with a normal immune system) is given to provide the missing antibodies. An antiviral drug (acyclovir) is given to prevent viral infections, and platelet transfusions are given to relieve bleeding problems.
If bleeding problems are severe, doctors may remove the spleen. However, this procedure is avoided if possible because it increases the risk of a serious blood infection (septicemia).
Life expectancy is shortened. Premature death results most often from bleeding, but it may result from infections, autoimmune disorders, or cancers.
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