Interleukin-7 receptor α (IL-7Rα) deficiency: Cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients

Silvia Giliani, 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

Research output: Contribution to journalReview articlepeer-review

Abstract

Analysis of gene-targeted mice and patients with severe combined immunodeficiency due to mutations of the α chain of the interleukin-7 receptor (IL-7Rα) 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-7Rα 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-7Rα deficiency and discuss the results of hematopoietic stem cell transplantation.

Original languageEnglish
Pages (from-to)110-126
Number of pages17
JournalImmunological Reviews
Volume203
DOIs
StatePublished - Feb 2005
Externally publishedYes

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