Wiskott-Aldrich syndrome

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Wiskott-Aldrich syndrome (WAS) is an inherited, immunodeficiency disorder that occurs almost exclusively in males. The recessive genetic disorder is caused by a mutation in the WAS (Wiskott-Aldrich syndrome) gene, which is an X-linked trait. The gene mutation leads to abnormalities in B- and T-lymphocytes (white blood cells), as well as blood platelet cells. In a healthy individual, the T-cells provide protection against viral and fungal infection, the B cells produce antibodies, and platelets are responsible for blood clotting to prevent blood loss after a blood vessel injury.
Individuals diagnosed with WAS suffer from recurrent infections, eczema and thrombocytopenia (low levels of platelets).
Before 1935, patients only lived an average of eight months. Today, patients usually live an average of eight years, according to a recent case study. The cause of death is usually attributed to extensive blood loss. However, cancer (especially leukemia) is common and often fatal among WAS patients.
The only possible cure for WAS is a bone marrow transplant. However, if a patient's family member is not a possible match for a bone marrow donation, patients may have to wait years for a potential donor. Other aggressive treatments may also increase a patient's life expectancy. For instance, one study found that patients who underwent splenectomy (removal of the spleen) lived to be more than 25 years old. The spleen may harbor too many platelets, and cause a decrease in the number of platelets in circulation. Antibiotics, antivirals, antifungals, chemotherapeutic agents, immunoglobulins and corticosteroids have also been used to relieve symptoms and treat infections and cancer associated with WAS.
Researchers estimate that about four people per one million live male births develop the disease in the United States.
The syndrome is named after Dr. Robert Anderson Aldrich, an American pediatrician who described the disease in a family of Dutch-Americans in 1954, and Dr Alfred Wiskott, a German pediatrician who discovered the syndrome in 1937. Wiskott described three brothers with a similar disease, whose sisters were unaffected.

Related Terms

Antibodies, auto recessive, B-cells, bone marrow, bone marrow transplant, CBC, genetic disorder, immune system, immunodeficiency, inherited disorder, inherited immunodeficiency, leukocytes, leukemia, lymphoma, lymphocytes, malignancy, platelets, pneumonia, red blood cells, T-cells, thrombocytes, thrombocytopenia, tumor, WASP, white blood cells, Wiskott Aldrich syndrome, Wiskott-Aldrich syndrome protein, X-linked.