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Titolo:
Defect of lck in a patient with common variable immunodeficiency
Autore:
Sawabe, T; Horiuchi, T; Nakamura, M; Tsukamoto, H; Nakahara, K; Harashima, S; Tsuchiya, T; Nakano, S;
Indirizzi:
Kyushu Univ, Fac Med, Dept Internal Med 1, Fukuoka 8128582, Japan Kyushu Univ Fukuoka Japan 8128582 Internal Med 1, Fukuoka 8128582, Japan
Titolo Testata:
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
fascicolo: 6, volume: 7, anno: 2001,
pagine: 609 - 614
SICI:
1107-3756(200106)7:6<609:DOLIAP>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
CELL ANTIGEN RECEPTOR; SIGNAL-TRANSDUCTION; TYROSINE KINASE; NEUROFIBROMATOSIS TYPE-1; THYMOCYTE DEVELOPMENT; NONSENSE MUTATIONS; MICE LACKING; MUTANT MICE; T-CELLS; EXPRESSION;
Keywords:
immunodeficiency syndromes; protein tyrosine kinase; T-cell antigen receptor; signal transduction; alternative splicing;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Horiuchi, T Kyushu Univ, Fac Med, Dept Internal Med 1, Fukuoka 8128582, Japan Kyushu Univ Fukuoka Japan 8128582 1, Fukuoka 8128582, Japan
Citazione:
T. Sawabe et al., "Defect of lck in a patient with common variable immunodeficiency", INT J MOL M, 7(6), 2001, pp. 609-614

Abstract

Common variable immunodeficiency (CVID) is a congenital immunological disorder characterized by defective antibody production with normal count of peripheral B lymphocytes. The basic immunologic defects that leads to CVID are still unknown, however, a proportion of CVID is suggested to be caused bydecreased CD4(+) helper T cell activity. In addition, recent reports indicate that a defect of T cell receptor (TCR)-associated signaling molecules results in congenital immune deficiency in human. In the present study, we investigated lck, a signaling molecule downstream of TCR, in a patient with CVID plus CD4 lymphopenia, and found an aberrantly spliced lck transcript lacking the entire exon 7 associated with the decrease in the expression of lck protein. An identical splicing abnormality has been previously demonstrated in a case of severe combined immunodeficiency with selective CD4 lymphopenia, although the case showed almost complete loss of the expression of lck protein. Considering these findings, the aberrant splicing of lck gene is suggested to be correlated, at least with a subset of congenital immunodeficiency plus CD4 lymphopenia.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/04/20 alle ore 20:13:34