Combined Immunodeficiencies due to defects in signal transduction: Defects of the γ(c)-JAK3 signaling pathway as a model

Immunobiology

Volumn 202, Issue 2, 2000, Pages 106-119

  Notarangelo, Luigi D ^a   Giliani, Silvia ^a   Mella, Patrizia ^a   Fabian Schumacher, R ^a   Mazza, Cinzia ^a   Savoldi, Gianfranco ^a   Rodriguez Pérez, Carmen ^a   Badolato, Raffaele ^a   Mazzolari, Evelina ^a   Porta, Fulvio ^a   Candotti, Fabio ^b   Ugazio, Alberto G ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE RECEPTOR; INTERLEUKIN 2; INTERLEUKIN 2 RECEPTOR; INTERLEUKIN 7; JANUS KINASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; B LYMPHOCYTE; CELL MATURATION; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; CYTOLOGY; DEVELOPMENTAL DISORDER; FUNCTIONAL DISEASE; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; IMMUNOPATHOGENESIS; IMMUNOPHENOTYPING; MOLECULAR GENETICS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; T LYMPHOCYTE; X CHROMOSOMAL INHERITANCE;

EID: 0033901329     PISSN: 01712985     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0171-2985(00)80058-3     Document Type: Article

References (78)

1. Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients
2. Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants
3. Interleukin-2 receptor gamma mutation results in X-linked severe combined immunodeficiency in humans
4. Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male
5. Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting
6. Interleukin-2 receptor gamma chain: A functional component of the interleukin-4 receptor
7. Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4
8. Interleukin-2 receptor gamma chain: A functional component of the interleukin-7 receptor
9. Interaction of IL-2Rβ and γc chains with Jak1 and Jak3: Implications for XSCID and XCID
10. Utilization of the beta and gamma chains of the IL-2 receptor by the novel cytokine IL-15
11. Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine
12. Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice
13. + severe combined immunodeficiency
14. IL-15 receptor maintains lymphoid homeostasis by supporting lymphocyte homing and proliferation
15. Cytokine receptor signalling
16. Two putative protein-tyrosine kinases identified by application of the polymerase chain reaction
17. Jaks, STATs, cytokine signal transduction, and immunoregulation: Are we there yet?
18. Advances in the understanding of cytokine signal transduction: The role of Jaks and STATs in immunoregulation and the pathogenesis of immunodeficiency
19. Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits
20. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
21. Mutation of Jak3 in a patient with SCID: Essential role of Jak3 in lymphoid development
22. Involvement of the Jak-3 Janus kinase in signaling by interleukins 2 and 4 in lymphoid and myeloid cells
23. Activation of JAK3, but not JAK1, is critical to interleukin-4 (IL-4) stimulated proliferation and requires a membrane-proximal region of IL4 receptor α
24. Interleukins 2, 4, 7, and 15 stimulate tyrosine phosphorylation of insulin receptor substrates 1 and 2 in T cells
25. The Janus kinase family and signaling through members of the cytokine receptor superfamily
26. Cytokine signaling through nonreceptor protein tyrosine kinases
27. Diversity in function and regulation of MAP kinase pathways
28. Cytokine receptor signaling mechanisms
29. Role of IRS-2 in insulin and cytokine signalling
30. STATs: Signal transducers and activators of transcription
31. Interleukin-7 can induce the activation of Jak1, Jak3 and STAT5 proteins in murine T cells
32. Interleukin 4 activates a Signal Transducer and Activator of Transcription (Stat) protein which interacts with an interferon-γ activation site-like sequence upstream of the Iε exon in a human B cell line
33. Interleukin 2 activates STAT5 transcription factor (mammary gland factor) and specific gene expression in T lymphocytes
34. Identification and purification of human Stat proteins activated in response to interleukin-2
35. Structural and functional basis for JAK3-deficient severe combined immunodeficiency
36. Revised exon-intron structure of human JAK3 locus
37. Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
38. Prenatal diagnosis of JAK3 deficient SCID
39. The amino terminus of JAK3 is necessary and sufficient for binding to the common γ chain and confers the ability to transmit interleukin 2-mediated signals
40. Autosomal SCID caused by a point mutation in the N-terminus of Jak3: Mapping of the Jak3-receptor interaction domain
41. Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: Evidence for interactions between the kinase and pseudokinase domains
42. Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways
43. Function of the interleukin-2 (IL-2) receptor gamma-chain in biologic responses of X-linked severe combined immunodeficient B cells to IL-2, IL-4, IL-13, and IL-15
44. IL-4 and IL-13 receptors: Are they one and the same?
45. cDNA cloning and characterization of the human interleukin 13 receptor gamma chain
46. Cloning and characterization of a binding subunit of the interleukin 13 receptor that is also a component of the interleukin 4 receptor
47. IL2RGbase: A database of γc-chain defects causing human X-SCID
48. Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells
49. Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency
50. An interleukin-2 receptor γ chain mutation with normal thymus morphology
51. Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency
52. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells
53. Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor
54. Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: Molecular and cellular characterization
55. The interleukin-2 and interleukin-4 receptors studied by molecular modelling
56. Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase
57. T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor γc chain in a severe combined immune deficiency X1 patient
58. Domestic animal models of severe combined immunodeficiency: Canine X-linked severe combined immunodeficiency and severe combined immunodeficiency in horses
59. IL-2Rγ gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease
60. Postnatal development of T cells in dogs with X-linked severe combined immunodeficiency
61. Lymphoid development in mice with a targated deletion of the interleukin 2 receptor γ chain
62. Defective lymphoid development in mice lacking expression of the common cytokine receptor γ chain
63. Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3
64. Developmental defects of lymphoid cells in Jak3 kinase-deficient mice
65. Defective lymphoid development in mice lacking Jak3
66. Reconstiturion of early lymphoid proliferation and immune function in Jak3-deficient mice by interleukin-3
67. Deregulated TCRαβ T cell population provokes extramedullary hematopoiesis in mice deficient in the common γ chain
68. Interleukin-2 receptor α chain regulates the size and content of the peripheral lymphoid compartment
69. Deregulated T cell activation and autoimmunity in mice lacking interleukin-2 receptor β
70. Human immune disorder arising from mutation of the α chain of the interleukin-2 receptor
71. γ(c) gene transfer in the presence of stem cell factor, FLT-3L, interleukin-7 (IL-7), IL-1alfa, and IL-15 cytokines restores T-cell differentiation from γc(-) X-linked severe combined immuno-deficiency cells in murine fetal thymic organ cultures
72. Restoration of lymphocyte function in Janus kinase 3-deficient mice by retroviral-mediated gene transfer
73. Virus-specific immunity after gene therapy in a murine model of severe combined immunodeficiency
74. γc gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function
75. Retroviral-mediated gene correction for X-linked severe combined immunodeficiency
76. In vitro correction of JAK3-deficient severe combined immunodeficiency by retro-viral-mediated gene transduction
77. In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI)
78. Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow