Diagnoses & Conditions

Wiskott-Aldrich Syndrome (WAS)

Understanding WAS

Wiskott-Aldrich syndrome (WAS) is a primary deficiency disorder and genetic condition that affects blood and immune system cells and is characterized by increased susceptibility to infections and abnormal bleeding. It is X-linked and as such females can be carriers of the condition, but clinical symptoms occur almost exclusively in males. Individuals with this condition have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets).

Symptoms of WAS

Wiskott-Aldrich syndrome (WAS) is characterized by an increased tendency to bleed due to low platelets, recurrent bacterial, viral, and fungal infections, and eczema of the skin. Patients with WAS also have an increased risk of developing autoimmune disease and have an increased risk of cancers, especially lymphoma or leukemia. The most common autoimmune diseases WAS patients develop are destruction of red blood cells or platelets, or development of blood vessel inflammation (vasculitis).

Diagnosing WAS

Diagnosis is suspected in any boy with unusual bleeding or bruising, or with abnormal platelet count or size. This may be confirmed by a platelet tests. Evaluation of the immune system includes drawing immunoglobulin levels. Immunoglobulin type G (IgG) is expected to be low, and IgE levels are frequently elevated. Testing for immune system response to vaccine yields a reduced response. A definitive diagnosis can be made with gene sequencing.

Treating WAS

To raise the platelet count, high dose immune globulin therapy is recommended. In the absence of a spleen, infections can be fatal rapidly, so patients receive ongoing regular prophylactic antibiotics and immune globulin replacement therapy. Immune globulin is extracted from a large pool of human plasma and contains all the important antibodies present in the normal population. Immune globulin therapy can be administered into the blood stream intravenously (IVIG). In the absence of bleeding problems, immune globulin therapy can also be administered under the skin subcutaneously (SCIG). Treatment for other symptoms include systemic steroids or immune globulin therapy (for autoimmune disease), steroid ointments or moisturizing cream for eczema, bone marrow/stem cell transplant and gene therapy.


The information provided on this website is not medical advice, nor is it intended to be a substitute for medical advice, diagnosis, and treatment. Always seek the advice of a physician or other qualified health provider with questions concerning a medical condition. Never disregard professional medical advice, or delay seeking it based on information provided on this website.