Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome
Details
Serval ID
serval:BIB_AE4A6A3FB3EF
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome
Journal
Blood
ISSN
1528-0020 (Electronic)
ISSN-L
0006-4971
Publication state
Published
Issued date
2008
Volume
111
Number
10
Pages
5064-7
Language
english
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.
Abstract
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.
Keywords
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
Yes
Create date
01/11/2017 10:29
Last modification date
20/08/2019 15:18