Interleukin-7 receptor α (IL-7Rα) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients |
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| Authors: | Silvia Giliani ,Luigi Mori,Geneviè ve 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 |
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| Affiliation: | "Angelo Nocivelli" Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.;INSERM U429, Hôpital Necker Enfants-Malades, Paris, France.;Unitéd'Immunologie et d'Hématologie Pédiatriques, Hôpital Debrousse, Lyon, France.;Meyer Children Hospital, B. Rappaport School of Medicine, Technion, Haifa, Israel.;Division of Immunology, Hospital General Universitario Gregorio Marañon, Madrid, Spain. |
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| Abstract: | ![]()
Summary: 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. |
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