Interleukin-7 receptor α chain-dependent signaling is required for T-cell development. Basis for T-B+NK+ severe combined immunodeficiencies in humans

Immunology and Allergy Clinics of North America

Volumn 20, Issue 1, 2000, Pages 51-63

  Puel, Anne ^b   Leonard, Warren J ^b  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 7 RECEPTOR;

ANIMAL CELL; AUTOSOMAL RECESSIVE INHERITANCE; B LYMPHOCYTE; CASE REPORT; CELL COUNT; COMBINED IMMUNODEFICIENCY; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOCYTE DIFFERENTIATION; MOUSE; NATURAL KILLER CELL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; T LYMPHOCYTE; X CHROMOSOME LINKAGE;

EID: 0033999686     PISSN: 08898561     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8561(05)70133-8     Document Type: Article

References (99)

1. T. Abe I. Tsuge Y. Kamachi Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency J Immunol 152 1994 5504
2. K. Akashi M. Kondo von Freeden-Jeffry U. Bcl-2 rescues T lymphopoiesis in interleukin-7 receptor–deficient mice Cell 89 1997 1033
3. R.N. Bamford A.J. Grant J.D. Burton The interleukin (IL)-2 receptor β chain is shared by IL-2 and a cytokine, provisionally designated IL-T, that stimulates T-cell proliferation and the induction of lymphokine-activated killer cells Proc Natl Acad Sci USA 91 1994 4940
4. D. Benjamin V. Sharma T.J. Knobloch B-cell IL-7: Human B-cell lines constitutively secrete IL-7 and express IL-7 receptors J Immunol 152 1994 4749
5. V.A. Boussiotis D.L. Barber T. Nakarai Prevention of T-cell anergy by signaling through the γc chain of the IL-2 receptor Science 266 1994 1039
6. R.H. Buckley R.I. Schiff S.E. Schiff Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in 108 infants J Pediatr 130 1997 378
7. R.H. Buckley S.E. Schiff R.I. Schiff Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency N Engl J Med 340 1999 508
8. X. Cao E.W. Shores Hu Li J. Defective lymphoid development in mice lacking expression of the common cytokine receptor γ chain Immunity 2 1995 223
9. W.E. Carson J.G. Giri M.J. Lindemann Interleukin (IL)-15 is a novel cytokine that activates human natural killer cells via components of the IL-2 receptor J Exp Med 180 1994 1395
10. M. Cavazzana-Calvo S. Hacein-Bey de Saint Basile G. Role of interleukin-2 (IL-2), IL-7, and IL-15 in natural killer cell differentiation from cord blood hematopoietic progenitor cells and from γc transduced severe combined immunodeficiency X1 bone marrow cells Blood 88 1996 3901
11. Cavazzana-Calvo M. Le Deist F. De Saint Basile G. Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency J Clin Invest 91 1993 1214
12. G.D. Chazen G.M. Pereira G. LeGros Interleukin-7 is a T-cell growth factor Proc Natl Acad Sci USA 86 1989 5923
13. M.E. Conley Molecular approaches to analysis of X-linked immunodeficiencies Annu Rev Immunol 10 1992 215
14. P.J. Conlon P.J. Morrissey R.R. Nordan Murine thymocytes proliferate in direct response to interleukin-7 Blood 74 1989 368
15. A.E. Corcoran F.M. Smart R.J. Cowling The interleukin-7 receptor α chain transmits distinct signals for proliferation and differentiation during B lymphopoiesis EMBO J 15 1996 1924
16. S. Cory Regulation of lymphocyte survival by the bcl-2 gene family Annu Rev Immunol 13 1995 513
17. De Saint Basile G. B. Arveiler I. Oberle Close linkage of the locus for X chromosome–linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13 Proc Natl Acad Sci USA 84 1987 7576
18. De Vall O.M. V. Seynheve Reticular dysgenesis Lancet 2 1959 1123
19. J.P. DiSanto W. Muller Guy Grand D. Lymphoid development in mice with a targeted deletion of the interleukin-2 receptor γ chain Proc Natl Acad Sci USA 92 1995 377
20. Fischer A. Cavazzana Calvo M. De Saint Basile G. Naturally occurring primary deficiencies of the immune system Annu Rev Immunol 15 1997 93
21. B.M. Foxwell C. Beadling D. Guschin Interleukin-7 can induce the activation of Jak 1, Jak 3, and STAT 5 proteins in murine T cells Eur J Immunol 25 1995 3041
22. S.L. Friend S. Hosier A. Nelson A thymic stromal cell line supports in vitro development of surface IgM+ B cells and produces a novel growth factor affecting B- and T-lineage cells Exp Hematol 22 1994 321
23. D.A. Fruman S.B. Snapper C.M. Yballe Impaired B-cell development and proliferation in absence of phosphoinositide 3-kinase p85α Science 283 1999 393
24. J.G. Giri M. Ahdieh J. Eisenman Utilization of the β and γ chains of the IL-2 receptor by the novel cytokine IL-15 EMBO J 13 1994 2822
25. R.G. Goodwin D. Friend S.F. Zielger Cloning of the human and murine interleukin-7 receptors: Demonstration of a soluble form and homology to a new receptor superfamily Cell 60 1990 941
26. R.G. Goodwin S. Lupton A. Schmierer Human interleukin-7: Molecular cloning and growth factor activity on human and murine B-lineage cells Proc Natl Acad Sci USA 86 1989 302
27. K.H. Grabstein T.J. Waldschmidt F.D. Finkelman Inhibition of murine B and T lymphopoiesis in vivo by an anti–interleukin-7 monoclonal antibody J Exp Med 178 1993 257
28. Y.W. He T.R. Malek Interleukin-7 receptor α is essential for the development of γδ + T cells but not natrual killer cells J Exp Med 184 1996 289
29. C. Heufler G. Topar A. Grasseger Interleukin-7 is produced by murine and human keratinocytes J Exp Med 178 1993 1109
30. R. Hirschorn Adenosine deaminase deficiency Immunodeficiency 5 1990 141
31. D.M. Hockenbery M. Zutter W. Hickey BCL2 protein is topographically restricted in tissues characterized by apoptotic cell death Proc Natl Acad Sci USA 88 1991 6961
32. C.M. Horvath J.E. Darnell The state of the STATs: Recent developments in the study of signal transduction to the nucleus Curr Opin Cell Biol 9 1997 233
33. K. Imada E.T. Bloom H. Nakajima Stat5b is essential for natural killer cell–mediated proliferation and cytolytic activity J Exp Med 188 1998 2067
34. N. Ishii H. Asao Y. Kimura Impairment of ligand binding and growth signaling of mutant IL-2 receptor γ chains in patients with X-linked severe combined immunodeficiency J Immunol 153 1994 1310
35. Jacobs H. P. Krimpenfort M. Haks PIM1 reconstitutes thymus cellularity in interleukin-7– and common γ chain–mutant mice, and permits thymocyte maturation in Rag- but not CD3γ-deficient mice J Exp Med 190 1999 1099
36. J.A. Johnston M. Kawamura R.A. Kirken Phosphorylation and activation of the Jak3 Janus kinase in response to interleukin-2 Nature 370 1994 151
37. Y. Kimura T. Takeshita M. Kondo Sharing of the IL-2 receptor γ chain with the functional IL-9 receptor complex Int Immunol 7 1995 115
38. M. Kondo K. Akashi J. Domen Bcl-2 rescues T lymphopoiesis, but not B- or NK-cell development, in common γ chain–deficient mice Immunity 7 1997 155
39. M. Kondo T. Takeshita M. Higuchi Functional participation of the IL-2 receptor γ chain in IL-7 receptor complexes Science 263 1994 1453
40. M. Kondo T. Takeshita N. Ishii Sharing of the interleukin-2 (IL-2) receptor γ chain between receptors for IL-2 and IL-4 Science 262 1993 1874
41. R. Kroncke H. Loppnow H.D. Flad Human follicular dendritic cells and vascular cells produce interleukin-7: A potential role for interleukin-7 in the germinal center reaction Eur J Immunol 26 1996 2541
42. R. Kuhn K. Rajewsky W. Muller Generation and analysis of interleukin-4–deficient mice Science 254 1991 707
43. S. Kumaki N. Ishii M. Minegishi Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency Blood 93 1999 607
44. G. Leclercq V. Debacker de Smedt M. Differential effects of interleukin-15 and interleukin-2 on differentiation of bipotential T/natural killer progenitor cells J Exp Med 184 1996 325
45. W.J. Leonard Type I cytokines and interferons and their receptors Paul W.E. Fundamental Immunology ed 4 1999 Lippincott-Raven Publishers Philadelphia 741 774
46. W.J. Leonard The molecular basis of X-linked severe combined immunodeficiency: Defective cytokine receptor signaling Annu Rev Med 47 1996 229
47. W.J. Leonard M. Noguchi S.M. Russell Sharing of a common γ chain, γc, by the IL-2, IL-4, and IL-7 receptors: Implications for X-linked severe combined immunodeficiency (XSCID) Adv Exp Med Biol 365 1994 225
48. W.J. Leonard M. Noguchi S.M. Russell The molecular basis of X-linked severe combined immunodeficiency: The role of the interleukin-2 receptor γ chain as a common γ chain, γc Immunol Rev 138 1994 61
49. W.J. Leonard J.J. O'Shea JAKs and STATs: Biological implications Annu Rev Immunol 16 1998 293
50. S.D. Levin R.M. Koelling S.L. Friend Thymic stromal lymphopoietin: A cytokine that promotes the development of IgM+ B cells in vitro and signals via a novel mechanism J Immunol 162 1999 677
51. Lin J.X. T.S. Migone M. Tsang The role of shared receptor motifs and common Stat proteins in the generation of cytokine pleiotropy and redundancy by IL-2, IL-4, IL-7, IL-13, and IL-15 Immunity 2 1995 331
52. J.P. Lodolce D.L. Boone S. Chai IL-15 receptor maintains lymphoid homeostasis by supporting lymphocyte homing and proliferation Immunity 9 1998 669
53. P. Macchi A. Villa S. Gillani Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID) Nature 377 1995 65
54. K. Maki S. Sunaga Y. Komagata Interleukin-7 receptor–deficient mice lack γδ T cells Proc Natl Acad Aci USA 93 1996 7172
55. E. Maraskovsky M. Teepe P.J. Morrissey Impaired survival and proliferation in IL-7 receptor–deficient peripheral T cells J Immunol 157 1996 5315
56. T. Miyazaki A. Kawahara H. Fujii Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits Science 266 1994 1045
57. −/− mice J Immunol 157 1996 2366
58. R. Moriggl D.J. Topham S. Teglund Stat5 is required for IL-2–induced cell cycle progression of peripheral T cells Immunity 10 1999 249
59. H. Nakajima W.J. Leonard Role of Bcl-2 in αβ T-cell development in mice deficient in the common cytokine receptor γ-chain: The requirement for Bcl-2 differs depending on the TCR/MHC affinity J Immunol 162 1999 782
60. H. Nakajima X. Liu A. Wynshaw-Boris An indirect effect of Stat5a in IL-2–induced proliferation: A critical role for Stat5a in IL-2–mediated IL-2 receptor α chain induction Immunity 7 1997 691
61. A.E. Namen S. Lupton K. Hjerrild Stimulation of B-cell progenitors by cloned murine interleukin-7 Nature 333 1988 571
62. M. Noguchi Y. Nakamura S.M. Russell Interleukin-2 receptor γ chain: A functional component of the interleukin-7 receptor Science 262 1993 1877
63. M. Noguchi H. Yi H.M. Rosenblatt Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans Cell 73 1993 147
64. Nosaka T. van Deursen J.M. R.A. Tripp Defective lymphoid development in mice lacking Jak3 Science 270 1995 800
65. K. Ohbo T. Suda M. Hashiyama Modulation of hematopoiesis in mice with a truncated mutant of the interleukin-2 receptor γ chain Blood 87 1996 956
66. fyn, two tyrosine kinases associated with the p90 interleukin-7 receptor in primary human T cells Eur J Immunol 25 1995 2956
67. R. Pahwa T. Ghatila S. Pahwa Recombinant interleukin-2 therapy in severe combined immunodeficiency disease Proc Natl Acad Sci USA 86 1989 5069
68. C. Pallard A.P. Stegmann van Kleffens T. Distinct roles of the phosphatidylinositol 3-kinase and STAT5 pathways in IL-7–mediated development of human thymocyte precursors Immunity 10 1999 525
69. L.S. Park D.J. Friend A.E. Schmierer Murine interleukin-7 (IL-7) receptor: Characterization on an IL-7–dependent cell line J Exp Med 171 1990 1073
70. J.J. Peschon P.J. Morrissey K.H. Grabstein Early lymphocyte expansion is severely impaired in interleukin-7 receptor–deficient mice J Exp Med 180 1994 1955
71. C.M. Pleiman S.D. Gimpel L.S. Park Organization of the murine and human interleukin-7 receptor genes: Two mRNAs generated by differential splicing and presence of a type I interferon-inducible promoter Mol Cell Biol 11 1991 3052
72. + severe combined immunodeficiency Nat Genet 20 1998 394
73. I.J. Puzanov M. Bennett V. Kumar IL-15 can substitute for the marrow microenvironment in the differentiation of natrual killer cells J Immunol 157 1996 4282
74. J.C. Renauld A. Kermouni A. Vink Interleukin-9 and its receptor: Involvement in mast cell differentiation and T-cell oncogenesis J Leukoc Biol 57 1995 353
75. J.C. Renauld A. Vink J. Louahed Interleukin-9 is a major antiapoptotic factor for thymic lymphomas Blood 85 1995 1300
76. B.E. Rich J. Campos-Torres R.I. Tepper Cutaneous lymphoproliferation and lymphomas in interleukin-7 transgenic mice J Exp Med 177 1993 305
77. S.M. Russell J.A. Johnston M. Noguchi Interaction of IL-2Rβ and γc chains with Jak1 and Jak3: Implications for XSCID and XCID Science 266 1994 1042
78. S.M. Russell A.D. Keegan N. Harada Interleukin-2 receptor γ chain: A functional component of the interleukin-4 receptor Science 262 1993 1880
79. S.M. Russell N. Tayebi H. Nakajima Mutation of Jak3 in a patient with SCID: Essential role of Jak3 in lymphoid development Science 270 1995 797
80. F.C. Schmalstieg W.J. Leonard M. Noguchi Missense mutation in exon 7 of the common γ chain gene causes a moderate form of X-linked combined immunodeficiency J Clin Invest 95 1995 1169
81. H. Schorle T. Holtschke T. Hunig Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting Nature 352 1991 621
82. K. Schwarz G.H. Gauss L. Ludwig RAG mutations in human B-cell–negative SCID Science 274 1996 97
83. C.L. Sentman J.R. Shutter D. Hockenbery Bcl-2 inhibits multiple forms of apoptosis but not negative selection in thymocytes Cell 67 1991 879
84. P.A. Sieling L. Sakimura K. Uyemura IL-7 in the cell-mediated immune response to a human pathogen J Immunol 154 1995 2775
85. J.L. Stephan V. Vlekova Le Deist F. Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients J Pediatr 123 1993 564
86. A. Strasser A.W. Harris S. Cory Bcl-2 transgene inhibits T-cell death and perturbs thymic self-censorship Cell 67 1991 880
87. T. Sudo S. Nishikawa N. Ohno Expression and function of the interleukin-7 receptor in murine lymphocytes Proc Natl Acad Sci USA 90 1993 9125
88. H. Suzuki Y. Terauchi M. Fujiwara Xid-like immunodeficiency in mice with disruption of the p85α subunit of phosphoinositide 3-kinase Science 283 1999 390
89. T. Takeshita H. Asao K. Ohtani Cloning of the γ chain of the human IL-2 receptor Science 257 1992 379
90. D.C. Thomis C.B. Gurniak E. Tivol Defects in B-lymphocyte maturation and T-lymphocyte activation in mice lacking Jak3 Science 270 1995 794
91. D.L. Vaux S. Cory J.M. Adams Bcl-2 gene promotes haemopoietic cell survival and cooperates with c-myc to immortalize pre–B cells Nature 335 1988 440
92. A.R. Venkitaraman R.J. Cowling Interleukin-7 induces the association of phosphatidylinositol 3-kinase with the α chain of the interleukin-7 receptor Eur J Immunol 24 1994 2168
93. fyn through a segment of its cytoplasmic tail Proc Natl Acad Sci USA 89 1992 12083
94. von Freeden-Jeffry U. P. Vieira L.A. Lucian Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine J Exp Med 181 1995 1519
95. M. Watanabe Y. Ueno T. Yajima Interleukin-7 is produced by human intestinal epithelial cells and regulates the proliferation of intestinal mucosal lymphocytes J Clin Invest 95 1995 2945
96. K. Weinberg R. Parkman Severe combined immunodeficiency due to a specific defect in the production of interleukin-2 N Engl J Med 322 1990 1718
97. B.A. Witthuhn O. Silvennoinen O. Miura Involvement of the Jak-3 Janus kinase in signalling by interleukins-2 and -4 in lymphoid and myeloid cells Nature 370 1994 153
98. Y.X. Zeng H. Takahashi M. Shibata JAK3 Janus kinase is involved in interleukin-7 signal pathway FEBS Lett 353 1994 289
99. M.H. Zhu J.A. Berry S.M. Russell Delineation of the regions of interleukin-2 (IL-2) receptor β chain important for association of Jak1 and Jak3. Jak1-independent functional recruitment of Jak3 to Il-2Rβ J Biol Chem 273 1998 10719