Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model

Détails

ID Serval
serval:BIB_575EFE9170C5
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model
Périodique
Immunobiology
Auteur⸱e⸱s
Notarangelo L. D., Giliani S., Mella P., Schumacher R. F., Mazza C., Savoldi G., Rodriguez-Perez C., Badolato R., Mazzolari E., Porta F., Candotti F., Ugazio A. G.
ISSN
0171-2985 (Print)
ISSN-L
0171-2985
Statut éditorial
Publié
Date de publication
08/2000
Volume
202
Numéro
2
Pages
106-19
Langue
anglais
Notes
Notarangelo, L D
Giliani, S
Mella, P
Schumacher, R F
Mazza, C
Savoldi, G
Rodriguez-Perez, C
Badolato, R
Mazzolari, E
Porta, F
Candotti, F
Ugazio, A G
eng
Research Support, Non-U.S. Gov't
Review
Netherlands
Immunobiology. 2000 Aug;202(2):106-19.
Résumé
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 the pathophysiology 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 (SCIDXI) has been shown to be due to defects of the IL2RG gene, encoding for the common gamma chain (gammac), shared by several cytokine receptors. Furthermore, defects of the JAK3 gene, encoding for an intracellular tyrosine kinase required for signal transduction through gammac-containing cytokine receptors, have been identified in patients with autosomal recessive T-B+ SCID. Characterization of the functional properties of cytokines that signal through the gammac-JAK3 signaling pathway has been 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 the alpha subunit of the IL-7 receptor (IL7Ralpha). The heterogeneity of genetic defects along the same signaling pathway that may 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.
Mots-clé
Animals, Cytokines/immunology, Humans, Immunophenotyping, Interleukin Receptor Common gamma Subunit, Janus Kinase 3, Models, Immunological, Protein-Tyrosine Kinases/*immunology, Receptors, Cytokine/immunology, Receptors, Interleukin-7/*immunology, Severe Combined Immunodeficiency/*immunology, *Signal Transduction
Pubmed
Création de la notice
01/11/2017 10:29
Dernière modification de la notice
20/08/2019 14:11
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