Somatic mosaicism in primary immune deficiencies

Details

Serval ID
serval:BIB_06D797D1BA17
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Title
Somatic mosaicism in primary immune deficiencies
Journal
Curr Opin Allergy Clin Immunol
Author(s)
Wada T., Candotti F.
ISSN
1473-6322 (Electronic)
ISSN-L
1473-6322
Publication state
Published
Issued date
12/2008
Volume
8
Number
6
Pages
510-4
Language
english
Notes
Wada, Taizo
Candotti, Fabio
eng
Intramural NIH HHS/
Research Support, N.I.H., Intramural
Review
Curr Opin Allergy Clin Immunol. 2008 Dec;8(6):510-4. doi: 10.1097/ACI.0b013e328314b651.
Abstract
PURPOSE OF REVIEW: Spontaneous genetic reversions and second-site mutations resulting in revertant somatic mosaicism are poorly understood phenomena with a seemingly frequent occurrence in primary immunodeficiency diseases. Here we summarize the several cases that have been reported thus far with particular focus on the most recent observations. RECENT FINDINGS: Revertant cells have been associated with attenuated clinical phenotypes in some, although not all, immunodeficient patients who presented with somatic mosaicism. Interestingly, the latest studies suggest that revertant cells may also be responsible for immune dysregulation. In addition, extensive molecular analysis of revertant cells has revealed that an unexpectedly large variety of genetic changes can be responsible for their emergence. SUMMARY: The occurrence of revertant somatic mosaicism in patients affected with primary immunodeficiency diseases is likely much more common than originally anticipated. The study of this fascinating phenomenon continues to provide clues as to the possible underlying mechanisms and to inform, albeit indirectly, the process of development of cell and gene therapy for these diseases.
Keywords
Animals, Cell Lineage/genetics, Chromosomes, Human, Pair 12, Codon, Nonsense, DNA Repair/immunology, Genetic Predisposition to Disease, Humans, Immunologic Deficiency Syndromes/blood/*genetics/pathology, Infant, Newborn, *Mosaicism, Risk Factors, Wiskott-Aldrich Syndrome/blood/*genetics/pathology
Pubmed
Create date
01/11/2017 10:29
Last modification date
20/08/2019 12:29
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