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Giliani, S. et al.

Giliani, Mori, de Saint Basile, Le Deist, Rodriguez-Perez, Forino, Mazzolari, Dupuis, Elhasid, Kessel, Galambrun, Gil, Fischer, Etzioni, Notarangelo,

Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.

Analysis of gene-targeted mice and patients with severe combined immunodeficiency due to mutations of the alpha chain of the interleukin-7 receptor (IL-7Ralpha) has shown important differences between mice and humans in the role played by IL-7 in lymphoid development. More recently, it has been shown that IL-7Ralpha is also shared by the receptor for another cytokine, thymic stromal lymphopoietin ( TSLP). In this review, we discuss recent advances in IL-7- and TSLP-mediated signaling. We also report on the clinical and immunological features of 16 novel patients with IL-7Ralpha deficiency and discuss the results of hematopoietic stem cell transplantation.[1]

References

Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. Giliani, S., Mori, L., de Saint Basile, G., Le Deist, F., Rodriguez-Perez, C., Forino, C., Mazzolari, E., Dupuis, S., Elhasid, R., Kessel, A., Galambrun, C., Gil, J., Fischer, A., Etzioni, A., Notarangelo, L.D. Immunol. Rev. (2005) [Pubmed]

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