Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency

Blood

Volumn 93, Issue 2, 1999, Pages 607-612

  Kumaki, Satoru ^a   Ishii, Naoto ^b   Minegishi, Masayoshi ^b   Tsuchiya, Shigeru ^b   Cosman, David ^b   Sugamura, Kazuo ^b   Konno, Tasuke ^b  

^a TOHOKU UNIVERSITY   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 15; INTERLEUKIN 15 RECEPTOR; INTERLEUKIN 2 RECEPTOR; INTERLEUKIN 4 RECEPTOR; INTERLEUKIN 7; INTERLEUKIN 7 RECEPTOR; INTERLEUKIN 9; INTERLEUKIN 9 RECEPTOR; RECOMBINANT INTERLEUKIN 2; RECOMBINANT INTERLEUKIN 4;

AMINO ACID SUBSTITUTION; ARTICLE; B LYMPHOCYTE; CASE REPORT; COMBINED IMMUNODEFICIENCY; ENZYME PHOSPHORYLATION; HUMAN; HUMAN CELL; MALE; NATURAL KILLER CELL; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; T LYMPHOCYTE; X CHROMOSOME LINKED DISORDER;

EID: 0033555427     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v93.2.607.402k12_607_612     Document Type: Article

References (40)

1. Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM: Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 130:378, 1997
2. Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ: Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73:147, 1993
3. Takeshita T, Asao H, Ohtani K, Ishii N, Kumaki S, Tanaka N, Munakata H, Nakamura M, Sugamura K: Cloning of the γ chain of the human IL-2 receptor. Science 257:379, 1992
4. Kumaki S, Kondo M. Takeshita T, Asao H, Nakamura M, Sugamura K: Cloning of the mouse interleukin 2 receptor γ chain: Demonstration of functional differences between the mouse and human receptors. Biochem Biophys Res Commun 193:356, 1993
5. Kondo M, Takeshita T, Ishii N, Nakamura M, Watanabe S, Arai K, Sugamura K: Sharing of the interleukin-2 (IL-2) receptor γ chain between receptors for IL-2 and IL-4. Science 262:1874, 1993
6. Noguchi M, Nakamura Y, Russell SM, Ziegler SF, Tsang M, Cao X, Leonard WJ: Interleukin-2 receptor γ chain: A functional component of the interleukin-7 receptor. Science 262:1877, 1993
7. Russell SM, Keegan AD, Harada N, Nakamura Y, Noguchi M, Leland P, Friedmann MC, Miyajima A, Puri RK, Paul WE, Leonard WJ: Interleukin-2 receptor γ chain: A functional component of the interleukin-4 receptor. Science 262:1880, 1993
8. Kondo M, Takeshita T, Higuchi M, Nakamura M, Sudo T, Nishikawa S, Sugamura K: Functional participation of the IL-2 receptor γ chain in IL-7 receptor complexes. Science 263:1453, 1994
9. Kimura Y, Takeshita T, Kondo M, Ishii N, Nakamura M, Van Snick J, Sugamura K: Sharing of the IL-2 receptor γ chain with the functional IL-9 receptor complex. Int Immunol 7:115, 1995
10. Giri JG, Ahdieh M, Eisenman J, Shanebeck K, Grabstein K, Kumaki S, Namen A, Park LS, Cosman D, Anderson D: Utilization of the β and γ chains of the IL-2 receptor by the novel cytokine IL-15. EMBO J 13:2822, 1994
11. Kumaki S, Ochs HD, Timour M, Schooley K, Ahdieh M, Hill H, Sugamura K, Anderson D, Zhu Q, Cosman D, Giri JG: Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: interleukin-15 binds to the B cells but not internalized efficiently. Blood 86:1428, 1995
12. von Freeden-Jeffry U, Vieira P, Lucian LA, McNeil T, Burdach SEG, Murray R: Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine. J Exp Med 181:1519, 1995
13. Peschon JJ, Morrissey PJ, Grabstein KH, Ramsdell FJ, Maraskovsky E, Gliniak BC, Park LS, Ziegler SF, Williams DE, Ware CB, Meyer JD, Davison BL: Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice. J Exp Med 180:1955, 1994
14. DiSanto JP, Müller W, Guy-Grand D, Fischer A, Rajewsky K: Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor γ chain. Proc Natl Acad Sci USA 92:377, 1995
15. Cao X, Shores EW, Hu-Li J, Anver MR, Kelsall BL, Russell SM, Drago J, Noguchi M, Grinberg A, Bloom ET, Paul WE, Katz SI, Love PE, Leonard WJ: Defective lymphoid development in mice lacking expression of the common cytokine receptor γ chain. Immunity 2:223, 1995
16. Ohbo K, Suda T, Hashiyama M, Mantani A, Ikebe M, Miyakawa K, Moriyama M, Nakamura M, Katsuki M, Takahashi K, Yamamura K, Sugamura K: Modulation of hematopoiesis in mice with a truncated mutant of the interleukin-2 receptor γ chain. Blood 87:956, 1996
17. -/- mice. Cell 89:1011, 1997
18. Akashi K, Kondo M, von Freeden-Jeffry U, Murray R, Weissman IL: Bcl-2 rescues T lymphopoiesis in interleukin-7 receptor-deficient mice. Cell 89:1033, 1997
19. Suzuki H, Duncan GS, Takimoto H, Mak TW: Abnormal development of intestinal intraepithelial lymphocytes and peripheral natural killer cells in mice lacking the IL-2 receptor β chain. J Exp Med 185:499, 1997
20. Kündig TM, Schorle H, Bachmann MF, Hengartner H, Zinkernagel RM, Horak I: Immune responses in interleukin-2-deficient mice. Science 262:1059, 1993
21. Giri JG, Kumaki S, Ahdieh M, Friend DJ, Loomis A, Shanebeck K, DuBose R, Cosman D, Park LS, Anderson DM: Identification and cloning of a novel IL-15 binding protein that is structurally related to the a chain of the IL-2 receptor. EMBO J 14:3654, 1995
22. Anderson DM, Kumaki S, Ahdieh M, Bertles J, Tometsko M, Loomis A, Giri J, Copeland NG, Gilbert DJ, Jenkins NA, Valentine V, Shapiro DN, Morris SW, Park LS, Cosman D: Functional characterization of the human interleukin-15 receptor α chain and close linkage of IL15RA and IL2RA genes. J Biol Chem 270:29862, 1995
23. Sadlack B, Kühn R, Schorle H, Rajewsky K, Müller W, Horak I: Development and proliferation of lymphocytes in mice deficient for both interleukins-2 and -4. Eur J Immunol 24: 281, 1994
24. Plum J, De Smedt M, Leclercq G, Verhasselt B, Vandekerckhove: Interleukin-7 is a critical growth factor in early human T-cell development. Blood 88:4239, 1996
25. Lai SY, Molden J, Goldsmith MA: Shared γc subunit within the human interleukin-7 receptor complex: a molecular basis for the pathogenesis of X-linked severe combined immunodeficiency. J Clin Invest 99:169, 1997
26. Ishii N, Asao H, Kimura Y, Takeshita T, Nakamura M, Tsuchiya S, Konno T, Maeda M, Uchiyama T, Sugamura K: Impairment of ligand binding and growth signaling of mutant IL-2 receptor γ-chains in patients with X-linked severe combined immunodeficiency. J Immunol 153:1310, 1994
27. Johnston JA, Kawamura M, Kirken RA, Chen Y-Q, Blake TB, Shibuya K, Ortaldo JR, McVicar DW, O'Shea JJ: Phosphorylation and activation of the Jak-3 Janus kinase in response to interleukin-2. Nature 370:151, 1994
28. Witthuhn BA, Silvennoinen O, Miura O, Lai KS, Cwik C, Liu ET, Ihle JN. Involvement of the Jak-3 Janus kinase in signaling by interleukins 2 and 4 in lymphoid and myeloid cells. Nature 370:153, 1994
29. Boussiotis VA, Barber DL, Nakarai T, Freeman GJ, Gribben JG, Bernstein GM, D'Andrea AD, Ritz J, Nadler LM: Prevention of T cell anergy by signaling through the γc chain of the IL-2 receptor. Science 266:1039, 1994
30. Russell SM, Johnston JA, Noguchi M, Kawamura M, Bacon CM, Friedmann M, Berg M, McVicar DW, Witthuhn BA, Silvennoinen O, Goldman AS, Schmalstieg FC, Ihle JN, O'Shea JJ, Leonard WJ: Interaction of IL-2Rβ and γc chains with Jak1 and Jak3: implications for XSCID and XCID. Science 266:1042, 1994
31. Miyazaki T, Kawahara A, Fujii H, Nakagawa Y, Minami Y, Liu ZJ, Oishi I, Silvennoinen O, Witthuhn BA, Ihle JN, Taniguchi T: Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. Science 266:1045, 1994
32. Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea JJ, Vezzoni P, Notarangelo LD. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 377:65, 1995
33. Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, Migone T-S, Noguchi M, Markert ML, Buckley RH, O'Shea JJ, Leonard WJ: Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science 270:797, 1995
34. Puck JM, de Saint Basile G, Schwarz K, Fugmann S, Fischer RE: IL2RGbase: a database of γc-chain defects causing human X-SCID. Immunol Today 13:507, 1996
35. Bazan JF: Structural design and molecular evolution of a cytokine receptor superfamily. Proc Natl Acad Sci USA 87:6934, 1990
36. Cosman D, Lyman SD, Idzerda RL, Beckmann MP, Park LS, Goodwin RG, March CJ: A new cytokine receptor superfamily. TIBS 15:265, 1990
37. Pepper AE, Buckley RH, Small TN, Puck JM: Two mutational hot spots in the interleukin-2 receptor γ chain gene causing human X-linked severe combined immunodeficiency. Am J Hum Genet 57:564, 1995
38. Conley ME, Buckley RH, Hong R, Guerra-Hanson C, Roifman CM, Brochstein JA, Pahwa S, Puck JM: X-linked severe combined immunodeficiency: Diganosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. J Clin Invest 85:1548, 1990
39. Kühn R, Rajewsky K, Müller W: Generation and analysis of interleukin-4 deficient mice. Science 254:707, 1991
40. Taylor N, Candotti F, Smith S, Oakes SA, Jahn T, Isakov J, Puck JM, O'Shea JJ, Weinberg K, Johnston JA: Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency. J Biol Chem 272:7314, 1997