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Review
. 2005 Feb:203:110-26.
doi: 10.1111/j.0105-2896.2005.00234.x.

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

Silvia Giliani  1 , Luigi Mori, Geneviève de Saint Basile, Francoise Le Deist, Carmen Rodriguez-Perez, Concetta Forino, Evelina Mazzolari, Sophie Dupuis, Ronit Elhasid, Aharon Kessel, Claire Galambrun, Juana Gil, Alain Fischer, Amos Etzioni, Luigi D Notarangelo
Affiliations
Review

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

Silvia Giliani et al. Immunol Rev. 2005 Feb.

Abstract

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.

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