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
Détails
ID Serval
serval:BIB_E7F8B4A0733C
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
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
Périodique
J Clin Immunol
ISSN
0271-9142 (Print)
ISSN-L
0271-9142
Statut éditorial
Publié
Date de publication
11/2007
Volume
27
Numéro
6
Pages
634-9
Langue
anglais
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.
Résumé
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.
Mots-clé
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
Création de la notice
01/11/2017 10:29
Dernière modification de la notice
20/08/2019 16:10