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

Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: modulatory role of regulatory B cells.
 

Author(s): Gerben Bouma, Natalie A Carter, Mike Recher, Dessislava Malinova, Marsilio Adriani, Luigi D Notarangelo, Siobhan O Burns, Claudia Mauri, Adrian J Thrasher

Journal: Eur. J. Immunol.. 2014 Sep;44(9):2692-702.

 

Patients deficient in the cytoskeletal regulator Wiskott-Aldrich syndrome protein (WASp) are predisposed to varied autoimmunity, suggesting it has an important controlling role in participating cells. IL-10-producing regulatory B (Breg) cells are emerging as important mediators of ...

Last Updated: 15 Sep 2014

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Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity.
 

Author(s): Christian Jörg Braun, Kaan Boztug, Anna Paruzynski, Maximilian Witzel, Adrian Schwarzer, Michael Rothe, Ute Modlich, Rita Beier, Gudrun Göhring, Doris Steinemann, Raffaele Fronza, Claudia Regina Ball, Reinhard Haemmerle, Sonja Naundorf, Klaus Kühlcke, Martina Rose, Chris Fraser, Liesl Mathias, Rudolf Ferrari, Miguel R Abboud, Waleed Al-Herz, Irina Kondratenko, László Maródi, Hanno Glimm, Brigitte Schlegelberger, Axel Schambach, Michael Heinrich Albert, Manfred Schmidt, Christof von Kalle, Christoph Klein

Journal: Sci Transl Med. 2014 Mar;6(227):227ra33.

 

Wiskott-Aldrich syndrome (WAS) is characterized by microthrombocytopenia, immunodeficiency, autoimmunity, and susceptibility to malignancies. In our hematopoietic stem cell gene therapy (GT) trial using a γ-retroviral vector, 9 of 10 patients showed sustained engraftment and correction ...

Last Updated: 13 Mar 2014

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Development of central nervous system autoimmunity is impaired in the absence of Wiskott-Aldrich syndrome protein.
 

Author(s): Marita Bosticardo, Silvia Musio, Elena Fontana, Stefano Angiari, Elena Draghici, Gabriela Constantin, Pietro L Poliani, Rosetta Pedotti, Anna Villa

Journal:

 

Wiskott-Aldrich Syndrome protein (WASP) is a key regulator of the actin cytoskeleton in hematopoietic cells. Defective expression of WASP leads to multiple abnormalities in different hematopoietic cells. Despite severe impairment of T cell function, WAS patients exhibit a high prevalence ...

Last Updated: 27 Jan 2014

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

[HLA haploidentical hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: a case report and literatures review].
 

Author(s): Hongwei Ma, Lihui Liu, Shu'na Xu, Wenqing Hu, Yongqing Zhang, Yongtao Ma

Journal: Zhonghua Xue Ye Xue Za Zhi. 2014 Nov;35(11):1027-9.

 

Last Updated: 24 Nov 2014

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Therapy for Wiskott-Aldrich Syndrome (WAS)
 

Status: Recruiting

Condition Summary: Wiskott-Aldrich Syndrome

 

Last Updated: 24 Nov 2014

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

Status: Recruiting

Condition Summary: Wiskott-Aldrich Syndrome

 

Last Updated: 2 Jun 2015

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Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients
 

Status: Recruiting

Condition Summary: Wiskott-Aldrich Syndrome; Thrombocytopenia; Bleeding

 

Last Updated: 20 Nov 2012

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