Wiskott Aldrich syndrome
Other Names for this Disease
- Aldrich syndrome
- Eczema thrombocytopenia immunodeficiency syndrome
- IMD 2
- Immunodeficiency 2
Your QuestionWhat is Wiskott Aldrich syndrome and what does it do to the body?
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Wiskott Aldrich syndrome is a condition that affects blood cells and cells of the immune system. It is seen almost exclusively in males. The condition is characterized by a tendency to bleed easily, development of an intensely itchy, scaling skin rash (eczema), and severe recurrent infections. Wiskott Aldrich syndrome is caused by mutations in the WAS gene, which is located on the X chromosome. The condition is inherited in an X-linked recessive pattern.  The leading treatment option for Wiskott Aldrich syndrome is bone marrow transplantation. Alternative treatments may include surgery to remove the spleen and other more conservative measures such as antibiotics, IVIG, and avoidance of foods which may cause allergic reactions.
Last updated: 10/27/2010
Individuals with Wiskott Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising or episodes of prolonged bleeding following minor trauma. Eczema, an inflammatory skin disorder characterized by abnormal patches of red, irritated skin, often occurs in people with this condition. Affected individuals also have an increased risk of infection due to dysfunction of many types of immune cells, such as T cells, B cells (small white blood cells from bone marrow responsible for producing antibody and serving as a precursor for plasma cell), dendritic cells, and natural killer cells. Some people develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs by mistake. The risk of developing some types of cancer, such as cancer of the immune system cells (lymphoma), is also increased in people with Wiskott-Aldrich syndrome.
Last updated: 10/27/2010
- Wiskott-Aldrich syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome. Accessed 10/27/2010.
- Primary Immunodeficiency. National Institute of Child Health and Human Development (NICHD). 2008; http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm. Accessed 10/27/2010.