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Interleukin‐7 receptor α (IL‐7Rα) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients
Author(s) -
Giliani Silvia,
Mori Luigi,
De Saint Basile Geneviève,
Le Deist Francoise,
RodriguezPerez Carmen,
Forino Concetta,
Mazzolari Evelina,
Dupuis Sophie,
Elhasid Ronit,
Kessel Aharon,
Galambrun Claire,
Gil Juana,
Fischer Alain,
Etzioni Amos,
Notarangelo Luigi D.
Publication year - 2005
Publication title -
immunological reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.839
H-Index - 223
eISSN - 1600-065X
pISSN - 0105-2896
DOI - 10.1111/j.0105-2896.2005.00234.x
Subject(s) - thymic stromal lymphopoietin , biology , immunology , cytokine , receptor , genetics
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.