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Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model

Notarangelo, LD; Giliani, S; Mazza, C; Mella, P; Savoldi, G; Rodriguez-Perez, C; Mazzolari, E; Fiorini, M; Duse, M and Plebani, A, et al. (2000) In Immunological Reviews 178. p.39-48
Abstract
Cytokines play a major role in lymphoid development. Defects of the common gamma chain (gamma (c)) or of the JAK3 protein in humans have been shown to result in a severe combined immune deficiency (SCID), with a profound defect in T and natural killer (NK)-cell development, whereas B-cell generation is apparently unaffected (T-B+NK- SCID). While extensive molecular and biochemical analysis of these patients has been instrumental in understanding better the biological properties of the gamma (c) and JAK3 protein, an unexpected phenotypic heterogeneity of gamma (c) and JAK3 deficiency has emerged, indicating the need for appropriate and extensive investigations even in patients with atypical presentations. At the same time, characterization... (More)
Cytokines play a major role in lymphoid development. Defects of the common gamma chain (gamma (c)) or of the JAK3 protein in humans have been shown to result in a severe combined immune deficiency (SCID), with a profound defect in T and natural killer (NK)-cell development, whereas B-cell generation is apparently unaffected (T-B+NK- SCID). While extensive molecular and biochemical analysis of these patients has been instrumental in understanding better the biological properties of the gamma (c) and JAK3 protein, an unexpected phenotypic heterogeneity of gamma (c) and JAK3 deficiency has emerged, indicating the need for appropriate and extensive investigations even in patients with atypical presentations. At the same time, characterization of the defects has been instrumental in the development of never therapeutic approaches, from in utero hematopoietic stem cell transplantation to gene therapy. (Less)
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type
Contribution to journal
publication status
published
subject
in
Immunological Reviews
volume
178
pages
39 - 48
publisher
Munksgaard International Publishers
external identifiers
  • wos:000166530000006
ISSN
1600-065X
DOI
10.1034/j.1600-065X.2000.17812.x
language
English
LU publication?
no
id
7c1a405d-a2f8-4c95-a0cc-31b060acdd61 (old id 3851915)
date added to LUP
2013-06-28 15:28:10
date last changed
2016-09-30 05:49:21
@article{7c1a405d-a2f8-4c95-a0cc-31b060acdd61,
  abstract     = {Cytokines play a major role in lymphoid development. Defects of the common gamma chain (gamma (c)) or of the JAK3 protein in humans have been shown to result in a severe combined immune deficiency (SCID), with a profound defect in T and natural killer (NK)-cell development, whereas B-cell generation is apparently unaffected (T-B+NK- SCID). While extensive molecular and biochemical analysis of these patients has been instrumental in understanding better the biological properties of the gamma (c) and JAK3 protein, an unexpected phenotypic heterogeneity of gamma (c) and JAK3 deficiency has emerged, indicating the need for appropriate and extensive investigations even in patients with atypical presentations. At the same time, characterization of the defects has been instrumental in the development of never therapeutic approaches, from in utero hematopoietic stem cell transplantation to gene therapy.},
  author       = {Notarangelo, LD and Giliani, S and Mazza, C and Mella, P and Savoldi, G and Rodriguez-Perez, C and Mazzolari, E and Fiorini, M and Duse, M and Plebani, A and Ugazio, AG and Vihinen, Mauno and Candotti, F and Schumacher, RF},
  issn         = {1600-065X},
  language     = {eng},
  pages        = {39--48},
  publisher    = {Munksgaard International Publishers},
  series       = {Immunological Reviews},
  title        = {Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model},
  url          = {http://dx.doi.org/10.1034/j.1600-065X.2000.17812.x},
  volume       = {178},
  year         = {2000},
}