Document Detail


Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway.
MedLine Citation:
PMID:  10887125     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Surrogate light chains (lambda 5/VpreB) are selectively expressed in early precursors of B cells. B-cell defects in X-linked agammaglobulinemia (XLA) are caused by mutations in the gene for Bruton's tyrosine kinase. To elucidate the nature of early B-lineage cells in bone marrow (BM), samples from 13 XLA patients and 24 healthy controls of different ages were comparatively analyzed using an antihuman VpreB monoclonal antibody. Expression of surrogate light (SL) and mu-heavy chains were examined after cell membrane permeabilization because they are mainly expressed in the cytoplasm of early B-lineage cells. A flow cytometric analysis of normal BM identified 5 discrete cell types of B cells: mu(-)SL(++) (pro-B [B-cell progenitor]), mu(low)SL(++) (pre-B1a), mu(low)SL(+) (pre-B1b), mu(low)SL(- )(pre-B2), and mu(high)SL(- )(B). The large cells, presumably in cycling states, were enriched in pre-B1a cells. The frequencies of B-lineage cells in BM were higher in young children, and declined with advancing age. In contrast, XLA showed a profound reduction in BM B-lineage cells. In XLA BM, an expansion of pro-B cells with some small pre-B1a cells was marked, but other cells were negligible. These observations illustrate a B-cell maturation defect in XLA as well as a normal human B-cell differentiation pathway. The results suggest that the genetic defect in XLA may impede the evolution of pro-B cells beyond the earlier pre-B stage into the later stage of pre-B cells in B-cell development. (Blood. 2000;96:610-617)
Authors:
K Nomura; H Kanegane; H Karasuyama; S Tsukada; K Agematsu; G Murakami; S Sakazume; M Sako; R Tanaka; Y Kuniya; T Komeno; S Ishihara; K Hayashi; T Kishimoto; T Miyawaki
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Blood     Volume:  96     ISSN:  0006-4971     ISO Abbreviation:  Blood     Publication Date:  2000 Jul 
Date Detail:
Created Date:  2000-08-17     Completed Date:  2000-08-17     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  610-7     Citation Subset:  AIM; IM    
Affiliation:
Department of Pediatrics at the Faculty of Medicine, Toyama Medical and Pharmaceutical University, the Toyama Red Cross Hospital, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Agammaglobulinemia / genetics*
Aging
B-Lymphocytes / pathology*
Bone Marrow Cells / pathology
Cell Differentiation*
Child
Child, Preschool
Flow Cytometry
Humans
Infant
Linkage (Genetics)*
Lymphocyte Count
Mutation
Protein-Tyrosine Kinases / genetics
Stem Cells / pathology*
X Chromosome*
Chemical
Reg. No./Substance:
EC 2.7.10.1/Protein-Tyrosine Kinases

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