Document Detail

Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome.
MedLine Citation:
PMID:  11290809     Owner:  NLM     Status:  MEDLINE    
The Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disease, arising from mutations of the WAS-protein (WASP) gene. Previously, we have reported that mononuclear cells from WAS patients showed lack/reduced of the intracellular WASP (WASP(dim)) by flow cytometric analysis, and analysis of WASP by flow cytometry (FCM-WASP) was useful for WAS diagnosis. In this study, we report a WAS patient who showed the unique pattern of FCM-WASP. The patient had the small population of normal expression of WASP (WASP(bright)) mononuclear cells together with the major WASP(dim) population. The WASP(bright) cells were detected in T cells, not in B cells or in monocytes. Surprisingly, the molecular studies of the WASP(bright) cells revealed that the inherited mutation of WASP gene was reversed to normal. His mother was proved as a WAS carrier, and HLA studies and microsatellite polymorphic studies proved that the WASP(bright) cells were derived from the patient himself. Therefore, we concluded that the WASP(bright) cells were resulted from spontaneous in vivo reversion of the inherited mutation. Furthermore, the scanning electron microscopic studies indicated that WASP-positive cells from the patient restored the dense microvillus surface projections that were hardly observed in the WASP(dim) cells. This case might have significant implications regarding the prospects of the future gene therapy for WAS patients.
T Ariga; T Kondoh; K Yamaguchi; M Yamada; S Sasaki; D L Nelson; H Ikeda; K Kobayashi; H Moriuchi; Y Sakiyama
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of immunology (Baltimore, Md. : 1950)     Volume:  166     ISSN:  0022-1767     ISO Abbreviation:  J. Immunol.     Publication Date:  2001 Apr 
Date Detail:
Created Date:  2001-04-06     Completed Date:  2001-06-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  2985117R     Medline TA:  J Immunol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  5245-9     Citation Subset:  AIM; IM    
Department of Human Gene Therapy and Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
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MeSH Terms
Antigens, CD3 / biosynthesis
Antigens, CD4 / biosynthesis
Antigens, CD8 / biosynthesis
Cell Line
Cell Line, Transformed
DNA Mutational Analysis
Flow Cytometry
Histocompatibility Testing
Microscopy, Electron, Scanning
Mutation / genetics*
Proteins / analysis,  genetics*
T-Lymphocyte Subsets / chemistry,  immunology,  pathology,  ultrastructure
Wiskott-Aldrich Syndrome / genetics*,  pathology
Wiskott-Aldrich Syndrome Protein
Reg. No./Substance:
0/Antigens, CD3; 0/Antigens, CD4; 0/Antigens, CD8; 0/Proteins; 0/WAS protein, human; 0/Wiskott-Aldrich Syndrome Protein

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