Wiskott-Aldrich Syndrome (WAS)

People with WAS have problems with their B cells, T cells, and platelets (blood components that aid in clotting). This can result in prolonged episodes of bleeding, recurrent bacterial and fungal infections, and increased risk of cancers and autoimmune diseases.

Causes

WAS is an X-linked recessive disease caused by mutations in the WAS gene, which provides instructions for production of Wiskott-Aldrich Syndrome Protein (WASP).

Signs and Symptoms

Mutations in the WAS gene differ from person to person, and some mutations result in more severe disease than others. Classic symptoms of WAS include the following:

Reduced platelet counts that lead to small bruises or bleeding in the skin, bowels, and gums or prolonged nose bleeds
Upper respiratory tract infections such as sinusitis
Lower respiratory infections and pneumonia
Eczema

People with Wiskott-Aldrich syndrome may continue to experience severe eczema when they reach adulthood.
Credit: NIAID

More severe forms of WAS can lead to the following:

Bloodstream infections, meningitis, and severe viral infections
Autoimmune-like symptoms, including blood vessel inflammation, anemia, and production of antibodies against the body’s own platelets
Lymphoma or leukemia

Diagnosis

Blood tests will indicate low platelet counts in boys who show unusual bleeding or bruises; low platelet counts also can be determined using blood samples. Children with WAS fail to produce effective antibodies to bacteria and vaccines; skin tests can reveal abnormal T-cell function that leads to this failure.

Treatment

Intravenous (through the vein) immunglobulin replacement therapy and iron supplements are given to children with WAS. Bone marrow transplant, which re-sets and replenishes the immune system, has been shown to be effective.