Interleukin-2 receptor γ-chain mutations in severe combined immunodeficiency with B-lymphocytes

European Journal of Pediatrics

Volumn 155, Issue 12, 1996, Pages 1018-1024

  Tsuge, I ^a   Matsuoka, H ^a   Abe, T ^a   Kamachi, Y ^a   Torii, S ^a  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

IL 2R chain; Mutation analysis; Severe combined immunodeficiency

Indexed keywords

INTERLEUKIN 2 RECEPTOR;

ARTICLE; B LYMPHOCYTE; COMBINED IMMUNODEFICIENCY; GENE DELETION; GENETIC DISORDER; HUMAN; INFANT; MALE; MUTATION; PRIORITY JOURNAL;

EID: 0029908528     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02532522     Document Type: Article

References (25)

1. Abe T, Tsuge I, Kamachi Y, Torii S, Utsumi K, Akahori Y, Ichihara Y, Kurosawa Y, Matsuoka H (1994) Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency. J Immunol 152: 5504-5513
2. Buckley RH, Schiff SE, Sampson HA, Schiff RI, Markert ML, Knutsen AP, Hershfield MS, Huang AT, Mickey GH, Ward FE (1986) Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation. J Immunol 136:2398-2407
3. DiSanto JP, Dautry-Varsat A, Certain S, Fischer A, De Saint Basile G (1994) Inlerleukin-2 (IL-2) receptor γ chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding. Eur J Immunol 24:475-479
4. Fischer A (1992) Severe combined immunodeficiencies. Immunodeficiency Reviews 3:83-100
5. Giri JG, Ahdieh M, Eisenman J, Shanebeck K, Grabstein K, Kumaki S, Namen A, Park LS, Cosman D, Anderson D (1994) Utilization of the βand γ chains of the IL-2 receptor by the novel cytokine IL-15. EMBO J 13:2822-2830
6. Ishii N, Asao H, Kimura Y, Takeshita T, Nakamura M, Tsuchiya S, Konno T, Maeda M, Uchiyama T, Sugamura K (1994) Impairment of ligand binding and growth signaling of mutant IL-2 receptor γ-chains in patients with X-linked severe combined immunodeficiency. J Immunol 153:1310-1317
7. Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441
8. Kondo M, Takeshita T, Ishii N, Nakamura M, Watanabe S, Arai K, Sugamura K (1993) Sharing of the interleukin-2 (IL-2) receptor γ chain between receptors for IL-2 and IL-4. Science 262:1874-1877
9. Kondo M, Takeshita T, Higuchi M, Nakamura M, Sudo T, Nishikawa S, Sugamura K (1994) Functional participation of the IL-2 receptor γ chain in IL-7 receptor complexes. Science 263: 1453-1454
10. Maniatis T, Fritsch EF, Sambrook J (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, New York
11. Markiewicz S, Subtil A, Dautry-Varsat A, Fischer A, De Saint Basile G, (1994) Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor γ chain gene in SCIDX1 that differently affect the mRNA processing. Genomics 21:291-293
12. Miyazaki T, Maruyama M, Yamada G, Hatakeyama M, Taniguchi T (1991) The integrity of the conserved 'WS motif' common to IL-2 and other cytokine receptors is essential for ligand binding and signal transduction. EMBO J 10:3191-3197
13. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503-2516
14. Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW Leonard. WJ (1993) Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157
15. Noguchi M, Adelstein S, Cao X, Leonard, WJ (1993) Characterization of the human interleukin-2 receptor γ-chain gene. J Biol Chem 268:13601-13608
16. Noguchi M, Nakamura Y, Russell SM, Ziegler SF, Tsang M, Cao X, Leonard WJ (1993) Interleukin-2 receptor γ-chain: a functional component of the interleukin-7 receptor. Science 262: 1877-1880
17. Puck JM, Deschênes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS (1993) The interleukin-2 receptor γ chain maps to Xq 13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet 2:1099-1104
18. Report of a WHO scientific group. (1992) Primary immunodeficiency diseases. Immunodefic Rev 3:195-236
19. Russell SM, Keegan AD, Harada N, Nakamura Y, Noguchi M, Leland P, Friedmann MC, Miyajima A, Puri RK, Paul WE, Leonard WJ (1993) Interleukin-2 receptor γ chain: a functional component of the interleukin-4 receptor. Science 262:1880-1883
20. e chains with Jak 1 and Jak 3: implications for XSCID and XCID. Science 266:1042-1045
21. Schorle H, Holtschke T, Hünig T, Schimpl A, Horak I (1991) Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting. Nature 352:621-624
22. Takeshita T, Asao H, Ohtani K, Ishii N, Kumaki S, Tanaka N, Munakata H, Nakamura M, Sugamura K (1992) Cloning of the γ chain of the human IL-2 receptor. Science 257:379-382
23. . Tsuge I, Ueda R, Nishida K, Namikawa R, Seto M, Maruyama T, Takamoto S, Matsuoka H, Torii S, Ota K, Takahashi T (1984) Five antigens on human T cells detected by mouse monoclonal antibodies. Clin Exp Immunol 584:444-452
24. Von Freeden-Jeffry U, Vieira P, Lucian LA, McNeil T, Burdach SEG, Murray R (1995) Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine. J Exp Med 181:1519-1526
25. Yawata H, Yasukawa K, Natsuka S, Murakami M, Yamasaki K, Hibi M, Taga T, Kishimoto T (1993) Structure-function analysis of human IL-6 receptor: dissociation of amino acid residues required for IL-6-binding and for IL-6 signal transduction through gp 130. EMBO J 12:1705-1712