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Wiskott-Aldrich syndrome

Reviewed December 2008

What is Wiskott-Aldrich syndrome?

Wiskott-Aldrich syndrome is a condition that affects blood cells and cells of the immune system. This condition is seen 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). 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, 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 increased 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.

What genes are related to Wiskott-Aldrich syndrome?

Mutations in the WAS gene cause Wiskott-Aldrich syndrome. The WAS protein (WASP) is found in cells made from hematopoietic stem cells, including blood cells and certain immune cells. This protein is involved in relaying signals from the cell surface to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move.

WAS gene mutations impair WASP's role in cell signaling and disrupt the function of the actin cytoskeleton in certain immune cells and blood cells. Immune cells that lack WASP function tend to have trouble responding to factors that trigger cell growth and division (proliferation). Additionally, these defective cells have problems with cell movement (motility) and difficulty attaching to other cells (cell adhesion). These disruptions in normal immune cell function contribute to eczema and the increased risk of infection, autoimmune disorders, and lymphoma associated with this condition. Impaired WASP function also interferes with normal platelet development, causing microthrombocytopenia, the characteristic sign of Wiskott-Aldrich syndrome.

How do people inherit Wiskott-Aldrich syndrome?

This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Where can I find information about treatment for Wiskott-Aldrich syndrome?

You may find information on treatment or management of Wiskott-Aldrich syndrome or some of its symptoms in the links below, particularly the links for Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.

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.

  • MedlinePlus - Health information
    • Encyclopedia: Thrombocytopenia (http://www.nlm.nih.gov/medlineplus/ency/article/000586.htm)
    • Health Topic: Bleeding Disorders (http://www.nlm.nih.gov/medlineplus/bleedingdisorders.html)
    • Health Topic: Eczema (http://www.nlm.nih.gov/medlineplus/eczema.html)
    • Health Topic: Immune System and Disorders (http://www.nlm.nih.gov/medlineplus/immunesystemanddisorders.html)
  • Additional NIH Resources - National Institutes of Health
    • National Heart, Lung, and Blood Institute: Thrombocytopenia (http://www.nhlbi.nih.gov/health/dci/Diseases/thcp/thcp_what.html)
    • National Institute of Child Health and Human Development: Primary Immunodeficiency (http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm)
  • Educational resources - Information pages
    • Children's Hospital Boston: Autoimmune Diseases (http://www.childrenshospital.org/az/Site614/mainpageS614P0.html)
    • Children's Hospital Boston: Immune System (http://www.childrenshospital.org/az/Site2177/mainpageS2177P0.html)
    • Children's Hospital Boston: Lymphoma (http://www.childrenshospital.org/az/Site1261/mainpageS1261P0.html)
    • Children's Hospital Boston: Thrombocytopenia (http://www.childrenshospital.org/az/Site1740/mainpageS1740P0.html)
    • Cincinnati Children's Hospital (http://www.cincinnatichildrens.org/svc/alpha/m/molecular-genetics/was-spec.htm)
    • Cleveland Clinic: Eczema (http://my.clevelandclinic.org/disorders/eczema/derm_overview.aspx)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,70/)
    • Mayo Clinic: Lymphoma (http://www.mayoclinic.org/lymphoma/)
    • Mayo Clinic: Pediatric Thrombocytopenia (http://www.mayoclinic.org/pediatric-thrombocytopenia/)
    • National Marrow Donor Program (http://www.marrow.org/PATIENT/Undrstnd_Disease_Treat/Lrn_about_Disease/Immune_System/WAS_and_Tx/index.html)
    • New York Online Access to Health (NOAH): Eczema (http://www.noah-health.org/en/skin/conditions/eczma.html)
    • New York Online Access to Health (NOAH): Thrombocytopenia (http://www.noah-health.org/en/blood/types/thrombocytopenia.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=906)
    • St. Jude Children's Research Hospital (http://www.stjude.org/stjude/v/index.jsp?vgnextoid=dd8c061585f70110VgnVCM1000001e0215acRCRD&vgnextchannel=bc4fbfe82e118010VgnVCM1000000e2015acRCRD)
    • Swedish Information Center for Rare Diseases (http://www.socialstyrelsen.se/en/rarediseases/Wiskott-Aldrich+syndrome.htm)
  • Patient support - For patients and families
    • CLIMB: Children Living with Inherited Metabolic Diseases (http://www.climb.org.uk/)
    • Family Village: Immune Deficiencies and Disorders (http://www.familyvillage.wisc.edu/lib_immu.htm)
    • Immune Deficiency Foundation Patient and Family Handbook: Wiskott-Aldrich syndrome (http://www.primaryimmune.org/publications/book_pats/e_ch07.pdf)
    • Internation Patient Organisation for Primary Immunodeficiencies (http://www.ipopi.org/)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=WAS%20related%20disorders)
    • Primary Immunodeficiency Association (http://www.pia.org.uk/)
    • University of Kansas Medical Center Resource List: Immune Deficiency Conditions (http://www.kumc.edu/gec/support/immune.html)

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

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=was)
  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=225598)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22Wiskott-Aldrich+syndrome%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=(Wiskott-Aldrich+syndrome[TI])+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1080+Days)
  • Online Books - Medical and science texts
    Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID): T Cell and Combined Immunodeficiency Disorders (http://books.mcgraw-hill.com/getommbid.php?isbn=0071459960&template=ommbid&c=185)
  • OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301000)

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

  • Aldrich Syndrome
  • eczema-thrombocytopenia-immunodeficiency syndrome
  • IMD2
  • immunodeficiency 2

See 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?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding Wiskott-Aldrich syndrome?

actin ; autoimmune ; cancer ; cell ; cell adhesion ; chromosome ; clotting ; cytoskeleton ; dendritic cell ; eczema ; gene ; hematopoietic ; immune system ; immunodeficiency ; incidence ; infection ; inheritance ; killer cells ; lymphoma ; mutation ; natural killer cells ; platelets ; proliferation ; protein ; recessive ; sex chromosomes ; sign ; stem cells ; syndrome ; thrombocytopenia ; tissue ; trait ; trauma ; X-linked recessive

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

References
  • de Noronha S, Hardy S, Sinclair J, Blundell MP, Strid J, Schulz O, Zwirner J, Jones GE, Katz DR, Kinnon C, Thrasher AJ. Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein. Blood. 2005 Feb 15;105(4):1590-7. Epub 2004 Oct 19. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15494425)
  • Gene Review: WAS-Related Disorders (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=was)
  • Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S. Clinical course of patients with WASP gene mutations. Blood. 2004 Jan 15;103(2):456-64. Epub 2003 Sep 11. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12969986)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16002738)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=18043243)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=14499269)
  • 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/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16630926)

 

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: December 2008
Published: May 11, 2009