Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome
Détails
ID Serval
serval:BIB_AE4A6A3FB3EF
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome
Périodique
Blood
ISSN
1528-0020 (Electronic)
ISSN-L
0006-4971
Statut éditorial
Publié
Date de publication
2008
Volume
111
Numéro
10
Pages
5064-7
Langue
anglais
Notes
Davis, Brian R
Dicola, Michael J
Prokopishyn, Nicole L
Rosenberg, Jonathan B
Moratto, Daniele
Muul, Linda M
Candotti, Fabio
Michael Blaese, R
eng
Intramural NIH HHS/
Case Reports
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Blood. 2008 May 15;111(10):5064-7. doi: 10.1182/blood-2007-06-095299. Epub 2008 Mar 10.
Dicola, Michael J
Prokopishyn, Nicole L
Rosenberg, Jonathan B
Moratto, Daniele
Muul, Linda M
Candotti, Fabio
Michael Blaese, R
eng
Intramural NIH HHS/
Case Reports
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Blood. 2008 May 15;111(10):5064-7. doi: 10.1182/blood-2007-06-095299. Epub 2008 Mar 10.
Résumé
Spontaneous somatic reversions of inherited mutations are poorly understood phenomena that are thought to occur uncommonly in a variety of genetic disorders. When molecularly characterized, revertant cells have rarely exhibited more than one revertant genotype per patient. We analyzed individual allospecific T-cell clones derived from a Wiskott-Aldrich syndrome (WAS) patient identified by flow cytometry to have 10% to 15% revertant, WAS protein-expressing lymphocytes in his blood. Genotypic analysis of the clones revealed a remarkable diversity of deletions and base substitutions resulting in at least 34 different revertant genotypes that restored expression of WASp. A large fraction of these revertant genotypes were also identified in primary T cells purified from peripheral blood. These data suggest that the use of sensitive methods may reveal the presence of wide arrays of individual genotypic revertants in WAS patients and offer opportunities for further understanding of their occurrence.
Mots-clé
Clone Cells, Family Health, Flow Cytometry, Genotype, Humans, Lymphocyte Subsets, *Lymphocytes, *Mutation, Wiskott-Aldrich Syndrome/*genetics/pathology, Wiskott-Aldrich Syndrome Protein/genetics
Pubmed
Open Access
Oui
Création de la notice
01/11/2017 10:29
Dernière modification de la notice
20/08/2019 15:18