title: Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
abstract: Analysis of gene-targeted mice and patients with severe combined immunodeficiency due to mutations of the alpha chain of the interleukin-7 receptor (IL-7Ralpha) 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-7Ralpha 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-7Ralpha deficiency and discuss the results of hematopoietic stem cell transplantation.
authors.affiliation: Angelo Nocivelli Institute of Molecular Medicine, Department of Pediatrics, University of Brescia, Italy. giliani@master.cci.unibs.it
authors.forename: Silvia
authors.initials: S
authors.lastname: Giliani
authors.forename: Luigi
authors.initials: L
authors.lastname: Mori
authors.forename: Geneviève
authors.initials: G
authors.lastname: de Saint Basile
authors.forename: Francoise
authors.initials: F
authors.lastname: Le Deist
authors.forename: Carmen
authors.initials: C
authors.lastname: Rodriguez-Perez
authors.forename: Concetta
authors.initials: C
authors.lastname: Forino
authors.forename: Evelina
authors.initials: E
authors.lastname: Mazzolari
authors.forename: Sophie
authors.initials: S
authors.lastname: Dupuis
authors.forename: Ronit
authors.initials: R
authors.lastname: Elhasid
authors.forename: Aharon
authors.initials: A
authors.lastname: Kessel
authors.forename: Claire
authors.initials: C
authors.lastname: Galambrun
authors.forename: Juana
authors.initials: J
authors.lastname: Gil
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Amos
authors.initials: A
authors.lastname: Etzioni
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001402:B-Lymphocytes / Q000276:immunology; D016207:Cytokines / Q000235:genetics / Q000276:immunology; D005260:Female; D006801:Humans; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D020395:Receptors, Interleukin-7 / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D015398:Signal Transduction; D013601:T-Lymphocytes / Q000276:immunology; D000094632:Thymic Stromal Lymphopoietin
chemical_list: D016207:Cytokines; D020395:Receptors, Interleukin-7; C415350:interleukin-7 receptor, alpha chain; D000094632:Thymic Stromal Lymphopoietin