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Wiskott-Aldrich Syndrome (WAS)
Wednesday, 25 June 2003
Wednesday, 18 February 2004


Wiskott-Aldrich syndrome (WAS) is an extremely rare genetic disorder that primarily affects boys and is characterized by increased susceptibility to infection, decreased levels of blood platelets (thrombocytopenia), and sometimes by skin eczema. The degree of symptoms is highly variable. In many cases, these conditions may lead to life-threatening infections and bleeding complications.


Wiskott-Aldrich Syndrome is seen in about 1 in 4 million male births. It rarely affects females. The onset usually occurs at birth and most cases are diagnosed before 24 months of age.

Signs and Symptoms

The first symptom usually seen is excessive bleeding. This will often be detected shortly after birth, if the boys are circumcised. These infants will also often have bloody diarrhea. In addition, their skin often shows red or purplish spots from the hemorrhaging of the tiniest vessels in the skin and due to abnormal blood-clotting mechanisms. These spots are called petechiae, or purpura if they are large. Older children have persistent eczema with skin infections and recurrent bacterial and viral infections. In some cases, hemolytic anemia develops, which is characterized by the increased or premature destruction of red blood cells and is often associated with an enlarged liver and spleen on physical examination.

Possible Causes

WAS is caused by the inheritance of an affected X chromosome. Diseases caused by genes on the X chromosome are said to be “sex-linked.” These diseases occur more commonly in males because they have only one X chromosome that they inherit from their mothers. For females to be born with a sex-linked disease, both their X chromosomes have to be affected, which is far less likely to occur. The affected chromosome is abnormal because one of its genes, called WASP, is mutated, which means that it has been permanently changed and therefore cannot produce the normal protein. The absence of the normal protein has multiple consequences on the functioning of the body.


The diagnosis of Wiskott-Aldrich syndrome is made by a comprehensive consideration and analysis of the child’s history, physical examination and laboratory findings. Diagnosis is more difficult in infancy before immune changes become present. Later, laboratory tests detect changes in the body’s B cells and T cells, which are part of the immune system. At birth, the platelet count is found to be abnormally low. In all suspected cases of WAS, diagnosis is confirmed by genetic testing.


The only curative treatment for WAS is bone marrow transplantation (BMT). Prior to this procedure, the child must first undergo special treatments to both prevent rejection of the new bone marrow from a foreign source and to destroy the child’s own abnormal hematopoietic stem cells (HSC) or red blood cell precursors. These treatments are termed “immunosuppressive therapy” and “myeloablative therapy,” respectively. BMT is associated with a number of side effects including infection, bleeding, liver damage, mouth and intestinal sores, and “graft-versus-host disease” (GVHD), an immune response caused by specific white blood cells (T lymphocytes) in the donor marrow that recognize the new host as foreign. GVHD may result in skin rashes, diarrhea and inflammation of the liver. This condition may be controlled by immunosuppressive medications, but it sometimes becomes a chronic problem. Less frequently, GVHD becomes fatal. Gene therapy is being attempted as a cure for Wiskott-Aldrich. In this new treatment, the child’s own hematopoietic stem cells are removed and a normal copy of the WASP gene that is defective is inserted instead. This eliminates the problems of GVHD. However, there has been no successful gene therapy trial for WAS to date.


The prognosis for children with Wiskott-Aldrich varies according to the severity of symptoms. Most children experience severe complications of bleeding, infection or malignancy and few survive beyond their teen years. However, survival continues to increase over time. Children who undergo splenectomy, or removal of the spleen, have a average survival of approximately 25 years. Average survival is even longer for children who undergo successful bone marrow transplantation. With appropriate care, prognosis may substantially improve.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


This is an international organization committed to the dissemination of information and to providing support for patients and their families.

National Primary Immunodeficiency Resource Center
This is an excellent site for both parents and professionals. Covers an extensive list of topics and includes a “Kids Corner.”

This is a highly academic site offering thorough and detailed information about the disease.
The site does a great job at teaching about WAS in relatively simple terms.
This site, sponsored by the national organization of rare disorders, offers concise information and a list of additional organizations devoted to WAS and related disorders.

Google Search for Wiskott-Aldrich Syndrome (WAS)

References and Sources