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Titolo:
Combined immunodeficiencies due to defects in signal transduction: Defectsof the gamma(c)-JAK3 signaling pathway as a model
Autore:
Notarangelo, LD; Giliani, S; Mella, P; Schumacher, RF; Mazza, C; Savoldi, G; Rodriguez-Perez, C; Badolato, R; Mazzolari, E; Porta, F; Candotti, F; Ugazio, AG;
Indirizzi:
Univ Brescia, Ist Med Mol Angelo Nocivelli, Pediat Clin, I-25121 Brescia, Italy Univ Brescia Brescia Italy I-25121 , Pediat Clin, I-25121 Brescia, Italy NHGRI, Clin Gene Therapy Branch, NIH, Bethesda, MD 20892 USA NHGRI Bethesda MD USA 20892 e Therapy Branch, NIH, Bethesda, MD 20892 USA
Titolo Testata:
IMMUNOBIOLOGY
fascicolo: 2, volume: 202, anno: 2000,
pagine: 106 - 119
SICI:
0171-2985(200008)202:2<106:CIDTDI>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECEPTOR-GAMMA-CHAIN; HEMATOPOIETIC PROGENITOR CELLS; IN-UTERO TRANSPLANTATION; PROTEIN-TYROSINE KINASES; MICE LACKING JAK3; C GENE-TRANSFER; INTERLEUKIN-2 RECEPTOR; T-CELLS; IL-2 RECEPTOR; LYMPHOID DEVELOPMENT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
78
Recensione:
Indirizzi per estratti:
Indirizzo: Notarangelo, LD Univ Brescia, Pediat Clin, Spedali Civili, I-25123 Brescia, Italy Univ Brescia Brescia Italy I-25123 -25123 Brescia, Italy
Citazione:
L.D. Notarangelo et al., "Combined immunodeficiencies due to defects in signal transduction: Defectsof the gamma(c)-JAK3 signaling pathway as a model", IMMUNOBIOL, 202(2), 2000, pp. 106-119

Abstract

Combined immune deficiencies comprise a spectrum of genetic disorders characterized by developmental or functional defects of both T and B lymphocytes. Recent progress in cell biology and molecular genetics has unraveled thepathophysiology of most of these defects. In particular, the most common form of severe combined immune deficiency in humans, with lack of circulating T cells, a normal or increased number of B lymphocytes, and an X-linked pattern of inheritance (SCIDX1) has been shown to be due to defects of the IL2RG gene, encoding for the common gamma chain (gamma(c)), shared by several cytokine receptors. Furthermore, defects of the JAK3 gene, encoding for an intracellular tyrosine kinase required for signal transduction through gamma(c)-containing cytokine receptors, have been identified in patients withautosomal recessive T-B+ SCID. Characterization of the functional properties of cytokines that signal through the gamma(c)-JAK3 signaling pathway hasbeen favored by the detailed analysis of SCID patients. Specifically, the key role of IL-7 in promoting T cell development has been substantiated by the identification of rare patients with T-B+ SCID who have a defect in thealpha subunit of the IL-7 receptor (IL7R alpha). The heterogeneity of genetic defects along the same signaling pathway thatmay lead to combined immune deficiency is paralleled by the heterogeneity of immunological phenotypes that may associate with defects in the same gene, thus creating a need for detailed immunological and molecular investigations in order to dissect the spectrum of combined immune deficiencies in humans.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 22:21:52