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Titolo:
ARRESTED REARRANGEMENT OF TCR V-BETA GENES IN THYMOCYTES FROM CHILDREN WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY DISEASE
Autore:
SLEASMAN JW; HARVILLE TO; WHITE GB; GEORGE JF; BARRETT DJ; GOODENOW MM;
Indirizzi:
UNIV FLORIDA,COLL MED,DEPT PEDIAT,POB 100296 GAINESVILLE FL 32610 UNIV FLORIDA,COLL MED,DEPT PATHOL GAINESVILLE FL 32610 UNIV FLORIDA,COLL MED,CTR MAMMALIAN GENET GAINESVILLE FL 32610 UNIV ALABAMA,DEPT SURG BIRMINGHAM AL 35233
Titolo Testata:
The Journal of immunology
fascicolo: 1, volume: 153, anno: 1994,
pagine: 442 - 448
SICI:
0022-1767(1994)153:1<442:AROTVG>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
VARIABLE-REGION GENES; RECEPTOR GAMMA-CHAIN; T-CELL MATURATION; ALPHA-CHAIN; FUNCTIONAL COMPONENT; HUMAN THYMUS; DIVERSITY; IDENTIFICATION; INTERLEUKIN-7; LYMPHOCYTES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
45
Recensione:
Indirizzi per estratti:
Citazione:
J.W. Sleasman et al., "ARRESTED REARRANGEMENT OF TCR V-BETA GENES IN THYMOCYTES FROM CHILDREN WITH X-LINKED SEVERE COMBINED IMMUNODEFICIENCY DISEASE", The Journal of immunology, 153(1), 1994, pp. 442-448

Abstract

Human X-linked severe combined immunodeficiency disease (SCID) is an immunodeficiency disorder in which T cell development is arrested in the thymic cortex. B lymphocytes in children with X-linked SCID seem todifferentiate normally. X-linked SCID is associated with a mutation in the gene that encodes the IL-2R gamma-chain. Because TCR-beta gene recombination is a pivotal initial event in T lymphocyte ontogeny within the thymus, we hypothesized that a failure to express normal IL-2R gamma could lead to impaired TCR-beta gene recombination in early thymic development. PCR was used to determine the status of TCR-beta gene-segment rearrangements in thymic DNA that had been obtained from children with X-linked SCID. The initial step in TCR-beta gene rearrangement, that of D beta to J beta recombination, was readily detected in all thymus samples from children with X-linked SCID; in contrast, V beta to DJ beta gene rearrangements were undetectable in the same samples. Both D beta to J beta and V beta to DJ beta TCR genes were rearranged in the thymic tissues obtained from immunologically normal children. Weconclude that TCR beta-chain gene rearrangement is arrested in children with X-linked SCID. Our results suggest a causative relationship between the failure of TCR beta-chain gene rearrangements to proceed beyond DJ beta rearrangements and the production of a nonfunctional IL-2Rgamma-chain.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 21:57:36