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Genetics Home Reference: your guide to understanding genetic conditions
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Wiskott-Aldrich syndrome

Reviewed February 2013

What is Wiskott-Aldrich syndrome?

Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency) and a reduced ability to form blood clots. This condition primarily affects males.

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.

Wiskott-Aldrich syndrome causes many types of white blood cells, which are part of the immune system, to be abnormal or nonfunctional, leading to an increased risk of several immune and inflammatory disorders. Many people with this condition develop eczema, an inflammatory skin disorder characterized by abnormal patches of red, irritated skin. Affected individuals also have an increased susceptibility to infection. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing some types of cancer, such as cancer of the immune system cells (lymphoma), is also greater in people with Wiskott-Aldrich syndrome.

How common is Wiskott-Aldrich syndrome?

The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 cases per million males worldwide; this condition is rarer in females.

What genes are related to Wiskott-Aldrich syndrome?

Mutations in the WAS gene cause Wiskott-Aldrich syndrome. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling activates the cell when it is needed and triggers its movement and attachment to other cells and tissues (adhesion). In white blood cells, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse).

WAS gene mutations that cause Wiskott-Aldrich syndrome lead to a lack of any functional WASP. Loss of WASP signaling disrupts the function of the actin cytoskeleton in developing blood cells. White blood cells that lack WASP have a decreased ability to respond to their environment and form immune synapses. As a result, white blood cells are less able to respond to foreign invaders, causing many of the immune problems related to Wiskott-Aldrich syndrome. Similarly, a lack of functional WASP in platelets impairs their development, leading to reduced size and early cell death.

Related Gene(s)

Changes in this gene are associated with Wiskott-Aldrich syndrome.

  • WAS

How do people inherit Wiskott-Aldrich syndrome?

This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Where can I find information about diagnosis or management of Wiskott-Aldrich syndrome?

These resources address the diagnosis or management of Wiskott-Aldrich syndrome and may include treatment providers.

  • Gene Review: WAS-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1178)
  • Genetic Testing Registry: Wiskott-Aldrich syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0043194)
  • MedlinePlus Encyclopedia: Thrombocytopenia (http://www.nlm.nih.gov/medlineplus/ency/article/000586.htm)
  • National Marrow Donor Program (http://bethematch.org/For-Patients-and-Families/Learning-about-your-disease/Wiskott-Aldrich-syndrome/)
  • Rare Disease Clinical Research Network: Primary Immune Deficiency Treatment Consortium (http://www.rarediseasesnetwork.org/PIDTC/Wiskott-Aldrich/)

You might also find information on the diagnosis or management of Wiskott-Aldrich syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Wiskott-Aldrich syndrome?

You may find the following resources about Wiskott-Aldrich syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Wiskott-Aldrich syndrome?

  • eczema-thrombocytopenia-immunodeficiency syndrome
  • IMD2
  • immunodeficiency 2
  • Wiskott syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Wiskott-Aldrich syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Wiskott-Aldrich syndrome?

actin ; autoimmune ; cancer ; cell ; chromosome ; clotting ; cytoskeleton ; deficiency ; eczema ; gene ; immune system ; immunodeficiency ; incidence ; infection ; inheritance ; inherited ; lymphoma ; mutation ; platelets ; protein ; sex chromosomes ; susceptibility ; synapse ; syndrome ; thrombocytopenia ; trauma ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Blundell MP, Worth A, Bouma G, Thrasher AJ. The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function. Dis Markers. 2010;29(3-4):157-75. doi: 10.3233/DMA-2010-0735. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21178275?dopt=Abstract)
  • Gene Review: WAS-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1178)
  • Gulácsy V, Freiberger T, Shcherbina A, Pac M, Chernyshova L, Avcin T, Kondratenko I, Kostyuchenko L, Prokofjeva T, Pasic S, Bernatowska E, Kutukculer N, Rascon J, Iagaru N, Mazza C, Tóth B, Erdos M, van der Burg M, Maródi L; J Project Study Group. Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome. Mol Immunol. 2011 Feb;48(5):788-92. doi: 10.1016/j.molimm.2010.11.013. Epub 2010 Dec 24. (http://www.ncbi.nlm.nih.gov/pubmed/21185603?dopt=Abstract)
  • Lutskiy MI, Rosen FS, Remold-O'Donnell E. Genotype-proteotype linkage in the Wiskott-Aldrich syndrome. J Immunol. 2005 Jul 15;175(2):1329-36. (http://www.ncbi.nlm.nih.gov/pubmed/16002738?dopt=Abstract)
  • Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol. 2008 Jan;15(1):30-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18043243?dopt=Abstract)
  • Notarangelo LD, Ochs HD. Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. Curr Opin Immunol. 2003 Oct;15(5):585-91. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14499269?dopt=Abstract)
  • Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol. 2006 Apr;117(4):725-38; quiz 739. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16630926?dopt=Abstract)
  • Thrasher AJ. New insights into the biology of Wiskott-Aldrich syndrome (WAS). Hematology Am Soc Hematol Educ Program. 2009:132-8. doi: 10.1182/asheducation-2009.1.132. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20008191?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2013
Published: December 22, 2014