The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006
Details
Serval ID
serval:BIB_E7F8B4A0733C
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006
Journal
J Clin Immunol
ISSN
0271-9142 (Print)
ISSN-L
0271-9142
Publication state
Published
Issued date
11/2007
Volume
27
Number
6
Pages
634-9
Language
english
Notes
Stewart, Donn M
Candotti, Fabio
Nelson, David L
eng
Congresses
Netherlands
J Clin Immunol. 2007 Nov;27(6):634-9. Epub 2007 Aug 10.
Candotti, Fabio
Nelson, David L
eng
Congresses
Netherlands
J Clin Immunol. 2007 Nov;27(6):634-9. Epub 2007 Aug 10.
Abstract
The Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease caused by mutations in the Wiskott-Aldrich Protein (WASP) gene, which typically leads to absent WASP protein expression in WAS leukocytes. However, some patients have been found with small populations of WASP-expressing cells caused by reverse or second-site mutations that allow protein expression. An international consortium was established to further investigate these phenomena. This paper summarizes data collected by this consortium that was presented at a workshop held during the XIIth Meeting of the European Society for Immunodeficiencies (ESID), October, 2006. WASP reversions were noted in approximately 11% of 272 patients tested. Many different cell lineages showed reversions. These data form the foundation for further investigation into this phenomenon, which has implications for therapy of this disease.
Keywords
Adolescent, Adult, Cell Lineage/genetics/immunology, Child, Child, Preschool, Europe, Humans, Infant, Mosaicism, Mutation, Societies, Medical, Wiskott-Aldrich Syndrome/*genetics/*metabolism/pathology/therapy, Wiskott-Aldrich Syndrome Protein/biosynthesis/deficiency/genetics/physiology
Pubmed
Create date
01/11/2017 10:29
Last modification date
20/08/2019 16:10