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.

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 247 free, full-text research articles on human participants. First 3 results:

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
 

Author(s): Elena Crestani, Stefano Volpi, Fabio Candotti, Silvia Giliani, Lucia Dora Notarangelo, Julia Chu, Juan Carlos Aldave Becerra, David Buchbinder, Janet Chou, Raif S Geha, Maria Kanariou, Alejandra King, Cinzia Mazza, Daniele Moratto, Robert Sokolic, Elizabeth Garabedian, Fulvio Porta, Maria Caterina Putti, Rima H Wakim, Erdyni Tsitsikov, Sung-Yun Pai, Luigi D Notarangelo

Journal: J. Allergy Clin. Immunol.. 2015 Nov;136(5):1401-4.e1-3.

 

Last Updated: 9 Nov 2015

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Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome.
 

Author(s): Nikita S Kolhatkar, Archana Brahmandam, Christopher D Thouvenel, Shirly Becker-Herman, Holly M Jacobs, Marc A Schwartz, Eric J Allenspach, Socheath Khim, Anil K Panigrahi, Eline T Luning Prak, Adrian J Thrasher, Luigi D Notarangelo, Fabio Candotti, Troy R Torgerson, Ignacio Sanz, David J Rawlings

Journal: J. Exp. Med.. 2015 Sep;212(10):1663-77.

 

Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder frequently associated with systemic autoimmunity, including autoantibody-mediated cytopenias. WAS protein (WASp)-deficient B cells have increased B cell receptor (BCR) and Toll-like receptor (TLR) signaling, suggesting ...

Last Updated: 1 Oct 2015

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Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients.
 

Author(s): Francesca Pala, Henner Morbach, Maria Carmina Castiello, Jean-Nicolas Schickel, Samantha Scaramuzza, Nicolas Chamberlain, Barbara Cassani, Salome Glauzy, Neil Romberg, Fabio Candotti, Alessandro Aiuti, Marita Bosticardo, Anna Villa, Eric Meffre

Journal: J. Clin. Invest.. 2015 Oct;125(10):3941-51.

 

Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by microthrombocytopenia, eczema, and high susceptibility to developing tumors and autoimmunity. Recent evidence suggests that B cells may be key players in the pathogenesis of autoimmunity in WAS. Here, ...

Last Updated: 2 Oct 2015

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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 20 free, full-text review articles on human participants. First 3 results:

Modelling of human Wiskott-Aldrich syndrome protein mutants in zebrafish larvae using in vivo live imaging.
 

Author(s): Rebecca A Jones, Yi Feng, Austen J Worth, Adrian J Thrasher, Siobhan O Burns, Paul Martin

Journal: J. Cell. Sci.. 2013 Sep;126(Pt 18):4077-84.

 

Wiskott-Aldrich syndrome (WAS) and X-linked neutropenia (XLN) are immunodeficiencies in which the function of several haematopoietic cell lineages is perturbed as a result of mutations in the actin regulator WASp. From in vitro cell biology experiments, and biochemical and structural ...

Last Updated: 16 Sep 2013

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Wiskott-Aldrich Syndrome

 

Last Updated: 14 Sep 2016

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Gene Therapy for Wiskott-Aldrich Syndrome (WAS)
 

Status: Recruiting

Condition Summary: Wiskott-Aldrich Syndrome

 

Last Updated: 11 Apr 2016

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Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for the Wiskott-Aldrich Syndrome
 

Status: Recruiting

Condition Summary: Wiskott-Aldrich Syndrome

 

Last Updated: 7 Nov 2016

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