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Wiskott-Aldrich Syndrome


James Fernandez

, MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve University

Last full review/revision Apr 2021| Content last modified Apr 2021

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.

Platelets Platelets The main components of blood include Plasma Red blood cells White blood cells Platelets read more Platelets (cell particles that help blood clot) are small and malformed. The spleen removes and destroys them, causing the platelet count to be low.

Symptoms of Wiskott-Aldrich Syndrome

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 Overview of Lymphoma Lymphomas are cancers of lymphocytes, which reside in the lymphatic system and in blood-forming organs. Lymphomas are cancers of a specific type of white blood cells known as lymphocytes. These... read more Overview of Lymphoma and leukemia Overview of Leukemia Leukemias are cancers of white blood cells or of cells that develop into white blood cells. White blood cells develop from stem cells in the bone marrow. Sometimes the development goes awry... read more ) and autoimmune disorders Autoimmune Disorders An autoimmune disorder is a malfunction of the body's immune system that causes the body to attack its own tissues. What triggers autoimmune disorders is not known. Symptoms vary depending on... read more (such as hemolytic anemia Autoimmune Hemolytic Anemia Autoimmune hemolytic anemia is a group of disorders characterized by a malfunction of the immune system that produces autoantibodies, which attack red blood cells as if they were substances... read more , inflammatory bowel disease Overview of Inflammatory Bowel Disease (IBD) In inflammatory bowel diseases, the intestine (bowel) becomes inflamed, often causing recurring abdominal pain and diarrhea. The two primary types of inflammatory bowel disease (IBD) are Crohn... read more , and vasculitis Overview of Vasculitis Vasculitic disorders are caused by inflammation of the blood vessels (vasculitis). Vasculitis can be triggered by certain infections or drugs or can occur for unknown reasons. People may have... read more Overview of 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

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 and thus help prevent infections. 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 (splenectomy). However, this procedure is avoided if possible because it increases the risk of a serious blood infection (septicemia).

More Information

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

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Severe Combined Immunodeficiency (SCID)
Severe combined immunodeficiency (SCID) is a genetic disorder that causes low levels of antibodies and T-cells (a type of cell that attacks foreign substances). Individuals with severe SCID have virtually no protection from bacteria, fungi, or viruses. As a result, they are prone to repeated and persistent infections. Which of the following is the age at which SCID usually first presents?
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