Wiskott-Aldrich syndrome is a hereditary immunodeficiency disorder characterized by abnormal antibody (immunoglobulin) production, T-cell (lymphocyte) malfunction, a low platelet count, and eczema.
People with Wiskott-Aldrich syndrome tend to bleed easily, and the first symptom is usually bloody diarrhea.
The diagnosis is based on results of blood tests and sometimes genetic testing.
Stem cell transplantation is necessary to preserve life.
(See also Overview of Immunodeficiency Disorders.)
Antibodies (immunoglobulins) are substances produced by the immune system to help defend the body against infection, cancer, and foreign substances. Antibodies are produced by a type of white blood cell called B cells. T cells are white blood cells that identify and attack foreign cells and substances. Deficiency of one or more types of immunoglobulin or of T-cells increases the risk of serious infection.
Wiskott-Aldrich syndrome is a primary immunodeficiency disorder. It usually affects only boys. It results from a mutation in a gene on the X (sex) chromosome (called an X-linked disorder). This gene codes for a protein needed by T cells and B cells (types of white blood 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 (thrombocytopenia).
Symptoms of Wiskott-Aldrich Syndrome
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.
Life expectancy is shortened. Premature death results most often from bleeding, but it may result from infections, autoimmune disorders, or cancers.
Diagnosis of Wiskott-Aldrich Syndrome
Blood tests
Sometimes genetic testing
Blood tests help doctors diagnose Wiskott-Aldrich syndrome. Theses tests are used to determine:
The total number of white blood cells and the percentages of the different types of white blood cells
The number of platelets
Levels of immunoglobulins
The quantity and type of antibodies produced in response to vaccines and other substances that usually trigger an immune response (antigens)
T-cell function
Genetic testing may be done to identify the mutation and confirm the diagnosis. It is recommended for close relatives.
If Wiskott-Aldrich syndrome is diagnosed, doctors monitor the person by regularly doing blood tests to check for leukemia and lymphoma.
Treatment of Wiskott-Aldrich Syndrome
Stem cell transplantation
Drugs to prevent infections
Immune globulin to replace the missing antibodies
Platelet transfusions
Stem cell transplantation is necessary to preserve life. Without it, most children with Wiskott-Aldrich syndrome die by age 15.
If bleeding problems are severe, doctors may remove the spleen (splenectomy). However, this procedure is avoided if possible because it increases the risk of a serious blood infection (septicemia).
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Immune Deficiency Foundation: Wiskott-Aldrich syndrome: Comprehensive information on Wiskott-Aldrich syndrome, including information on diagnosis and treatment and advice for people affected
