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

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

  • Immunol Rev. 2005 Feb;203:110-26. doi: 10.1111/j.0105-2896.2005.00234.x.
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

Affiliation

  • 1 Angelo Nocivelli Institute of Molecular Medicine, Department of Pediatrics, University of Brescia, Italy. giliani@master.cci.unibs.it
PMID: 15661025 DOI: 10.1111/j.0105-2896.2005.00234.x
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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