Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
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.
Giliani
Silvia
S
Angelo Nocivelli Institute of Molecular Medicine, Department of Pediatrics, University of Brescia, Italy. giliani@master.cci.unibs.it
Mori
Luigi
L
de Saint Basile
Geneviève
G
Le Deist
Francoise
F
Rodriguez-Perez
Carmen
C
Forino
Concetta
C
Mazzolari
Evelina
E
Dupuis
Sophie
S
Elhasid
Ronit
R
Kessel
Aharon
A
Galambrun
Claire
C
Gil
Juana
J
Fischer
Alain
A
Etzioni
Amos
A
Notarangelo
Luigi D
LD
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
D016207:Cytokines; D020395:Receptors, Interleukin-7; C415350:interleukin-7 receptor, alpha chain; D000094632:Thymic Stromal Lymphopoietin