Wiskott Aldrich syndrome

Common Name(s)

Wiskott Aldrich syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wiskott Aldrich syndrome" for support, advocacy or research.

Wiskott-Aldrich Foundation

The Wiskott-Aldrich Syndrome Foundation is a non profit organization dedicated to fund research to find better cures, provide information and support for families living with Wiskott-Aldrich Syndrome worldwide.

http://www.wiskott.org

Last Updated: 30 Oct 2012

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Wiskott Aldrich syndrome" for support, advocacy or research.

Wiskott-Aldrich Foundation

The Wiskott-Aldrich Syndrome Foundation is a non profit organization dedicated to fund research to find better cures, provide information and support for families living with Wiskott-Aldrich Syndrome worldwide.

http://www.wiskott.org

Last Updated: 30 Oct 2012

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General Resources

Guide for Families and Patients

This guide answers the common questions asked by families of children with WAS. Included are the latest advances in medical care, clinical trials, and resources for families.

Updated 4 Oct 2012

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WAS Family and Patient Guide

This guide answers the common questions asked by families of children with WAS. Included are the latest advances in medical care, clinical trials, and resources for families.

Updated 4 Oct 2012

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WAS Family and Patient Guide

This guide answers the common questions asked by families of children with WAS. Included are the latest advances in medical care, clinical trials, and resources for families

Updated 4 Oct 2012

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About WAS

This information and resource website, created in collaboration with physicians, researchers and patients. It serves as the primary source of information and online support for WAS families.

Updated 4 Oct 2012

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Research Opportunities

The foundation research program is used to motivate: 1. Novel and innovative research that will result in safer and less toxic cure 2. Studies to improve quality of life for patients 3. Studies to help understand WAS

Updated 26 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Wiskott Aldrich syndrome" returned 205 free, full-text research articles on human participants. First 3 results:

Mycolactone activation of Wiskott-Aldrich syndrome proteins underpins Buruli ulcer formation.
 

Author(s): Laure Guenin-Macé, Romain Veyron-Churlet, Maria-Isabel Thoulouze, Guillaume Romet-Lemonne, Hui Hong, Peter F Leadlay, Anne Danckaert, Marie-Thérèse Ruf, Serge Mostowy, Chiara Zurzolo, Philippe Bousso, Fabrice Chrétien, Marie-France Carlier, Caroline Demangel

Journal: J. Clin. Invest.. 2013 Apr;123(4):1501-12.

 

Mycolactone is a diffusible lipid secreted by the human pathogen Mycobacterium ulcerans, which induces the formation of open skin lesions referred to as Buruli ulcers. Here, we show that mycolactone operates by hijacking the Wiskott-Aldrich syndrome protein (WASP) family of actin-nucleating ...

Last Updated: 16 Apr 2013

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Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity.
 

Author(s): Hyoungjun Ham, Sabrice Guerrier, JungJin Kim, Renee A Schoon, Erik L Anderson, Michael J Hamann, Zhenkun Lou, Daniel D Billadeau

Journal: J. Immunol.. 2013 Apr;190(7):3661-9.

 

Recently, patients with mutations in DOCK8 have been reported to have a combined immunodeficiency characterized by cutaneous viral infections and allergies. NK cells represent a first-line defense against viral infections, suggesting that DOCK8 might participate in NK cell function. ...

Last Updated: 25 Mar 2013

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In Wiskott-Aldrich syndrome, platelet count matters.
 

Author(s): Luigi D Notarangelo

Journal: Blood. 2013 Feb;121(9):1484-5.

 

In a retrospective analysis of the French Registry of patients with Wiskott-Aldrich Syndrome (WAS), Mahlaoui et al have identified severe refractory thrombocytopenia (SRT) early in life as a major risk factor for poor outcome.

Last Updated: 1 Mar 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Wiskott Aldrich syndrome" returned 17 free, full-text review articles on human participants. First 3 results:

Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features.
 

Author(s): Tadashi Ariga

Journal: Allergol Int. 2012 Jun;61(2):183-9.

 

Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disease with unique and characteristic features. In 1994, the responsible gene for WAS, the WASP gene on X-chromosome, was identified. Since then, renewed clinical and basic researches of WAS have started and remarkably ...

Last Updated: 28 May 2012

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Wiskott-Aldrich Syndrome at the nexus of autoimmune and primary immunodeficiency diseases.
 

Author(s): Sophia Y Cleland, Richard M Siegel

Journal: FEBS Lett.. 2011 Dec;585(23):3710-4.

 

Wiskott-Aldrich Syndrome (WAS) is a X-linked primary immunodeficiency disorder also marked by a very high (up to 70%) incidence of autoimmunity. Wiskott-Aldrich Syndrome arises from mutations in the Wiskott-Aldrich Syndrome protein (WASp), a cytoplasmic protein that links signaling ...

Last Updated: 23 Nov 2011

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The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function.
 

Author(s): Michael P Blundell, Austen Worth, Gerben Bouma, Adrian J Thrasher

Journal: Dis. Markers. 2010 ;29(3-4):157-75.

 

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive primary immunodeficiency characterised by immune dysregulation, microthrombocytopaenia, eczema and lymphoid malignancies. Mutations in the WAS gene can lead to distinct syndrome variations which largely, although not exclusively, ...

Last Updated: 23 Dec 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Therapy for Wiskott-Aldrich Syndrome
 

Status: Recruiting

Condition Summary: Wiskott-Aldrich Syndrome

 

Last Updated: 18 Jan 2012

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Gene Therapy for Wiskott-Aldrich Syndrome (WAS)
 

Status: Recruiting

Condition Summary: Wiskott-Aldrich Syndrome

 

Last Updated: 3 May 2011

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Patients Treated for Wiskott-Aldrich Syndrome (WAS) Since 1990
 

Status: Not yet recruiting

Condition Summary: Wiskott-Aldrich Syndrome

 

Last Updated: 10 Apr 2014

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