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

@article{Notarangelo2000OfGA,
  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.},
  author={Luigi D Notarangelo and Silvia Giliani and Cinzia Mazza and Patrizia Mella and Gianfranco Savoldi and Candelario Rodr{\'i}guez-P{\'e}rez and Evelina Mazzolari and Maurilia Fiorini and Marzia Duse and Vassilios Lougaris and Alberto G. Ugazio and Mauno Vihinen and Fabio Candotti and Richard Fabian Schumacher},
  journal={Immunological reviews},
  year={2000},
  volume={178},
  pages={
          39-48
        }
}
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… CONTINUE READING
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