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,
Corresponding Author
Silvia Giliani
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
* Silvia Giliani “Angelo Nocivelli” Institute of Molecular Medicine Department of Pediatrics University of Brescia Spedali Civili 25123 Brescia Italy Tel.: +39 30 3996282 Fax: +39 30 3996059 E-mail: [email protected]Search for more papers by this authorLuigi Mori
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
Search for more papers by this authorGeneviève De Saint Basile
INSERM U429, Hôpital Necker Enfants-Malades, Paris, France.
Search for more papers by this authorFrancoise Le Deist
INSERM U429, Hôpital Necker Enfants-Malades, Paris, France.
Search for more papers by this authorCarmen Rodriguez-Perez
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
Search for more papers by this authorConcetta Forino
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
Search for more papers by this authorEvelina Mazzolari
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
Search for more papers by this authorSophie Dupuis
Unité d'Immunologie et d'Hématologie Pédiatriques, Hôpital Debrousse, Lyon, France.
Search for more papers by this authorRonit Elhasid
Meyer Children Hospital, B. Rappaport School of Medicine, Technion, Haifa, Israel.
Search for more papers by this authorAharon Kessel
Meyer Children Hospital, B. Rappaport School of Medicine, Technion, Haifa, Israel.
Search for more papers by this authorClaire Galambrun
Unité d'Immunologie et d'Hématologie Pédiatriques, Hôpital Debrousse, Lyon, France.
Search for more papers by this authorJuana Gil
Division of Immunology, Hospital General Universitario Gregorio Marañon, Madrid, Spain.
Search for more papers by this authorAlain Fischer
INSERM U429, Hôpital Necker Enfants-Malades, Paris, France.
Search for more papers by this authorAmos Etzioni
Meyer Children Hospital, B. Rappaport School of Medicine, Technion, Haifa, Israel.
Search for more papers by this authorLuigi D. Notarangelo
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
Search for more papers by this authorSilvia 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,
Corresponding Author
Silvia Giliani
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
* Silvia Giliani “Angelo Nocivelli” Institute of Molecular Medicine Department of Pediatrics University of Brescia Spedali Civili 25123 Brescia Italy Tel.: +39 30 3996282 Fax: +39 30 3996059 E-mail: [email protected]Search for more papers by this authorLuigi Mori
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
Search for more papers by this authorGeneviève De Saint Basile
INSERM U429, Hôpital Necker Enfants-Malades, Paris, France.
Search for more papers by this authorFrancoise Le Deist
INSERM U429, Hôpital Necker Enfants-Malades, Paris, France.
Search for more papers by this authorCarmen Rodriguez-Perez
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
Search for more papers by this authorConcetta Forino
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
Search for more papers by this authorEvelina Mazzolari
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
Search for more papers by this authorSophie Dupuis
Unité d'Immunologie et d'Hématologie Pédiatriques, Hôpital Debrousse, Lyon, France.
Search for more papers by this authorRonit Elhasid
Meyer Children Hospital, B. Rappaport School of Medicine, Technion, Haifa, Israel.
Search for more papers by this authorAharon Kessel
Meyer Children Hospital, B. Rappaport School of Medicine, Technion, Haifa, Israel.
Search for more papers by this authorClaire Galambrun
Unité d'Immunologie et d'Hématologie Pédiatriques, Hôpital Debrousse, Lyon, France.
Search for more papers by this authorJuana Gil
Division of Immunology, Hospital General Universitario Gregorio Marañon, Madrid, Spain.
Search for more papers by this authorAlain Fischer
INSERM U429, Hôpital Necker Enfants-Malades, Paris, France.
Search for more papers by this authorAmos Etzioni
Meyer Children Hospital, B. Rappaport School of Medicine, Technion, Haifa, Israel.
Search for more papers by this authorLuigi D. Notarangelo
“Angelo Nocivelli” Institute of Molecular Medicine and Department of Pediatrics, University of Brescia, Italy.
Search for more papers by this authorAbstract
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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