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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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.