Analysis of the CDR3 region of the rearranged IgH chain genes in patients with severe combined immunodeficiency and severe lymphopenia

Journal of Immunology

Volumn 156, Issue 12, 1996, Pages 4666-4671

  Minegishi, Yoshiyuki ^a,d   Akagi, Kunihiko ^b   Nishikawa, Ken Ichi ^c   Okawa, Hiroji ^a   Yata, Jun Ichi ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c TOTTORI UNIVERSITY   (Japan)

^d ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LYMPHOCYTE ANTIGEN RECEPTOR; RECOMBINASE;

AGAMMAGLOBULINEMIA; ARTICLE; B LYMPHOCYTE; COMBINED IMMUNODEFICIENCY; COVALENT BOND; DNA DAMAGE; ENZYME ACTIVITY; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC RECOMBINATION; HUMAN; HUMAN TISSUE; HUMORAL IMMUNITY; KILLER CELL; LYMPHOCYTOPENIA; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SOMATIC MUTATION;

B-LYMPHOCYTES; BASE SEQUENCE; DNA PRIMERS; FEMALE; GENE REARRANGEMENT, B-LYMPHOCYTE, HEAVY CHAIN; GENES, IMMUNOGLOBULIN; HUMANS; IMMUNOGLOBULIN VARIABLE REGION; INFANT; LYMPHOPENIA; MALE; MOLECULAR SEQUENCE DATA; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 0029989013     PISSN: 00221767     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. Rosen, F. S., M. D. Cooper, and R. J. P. Wedgwood. 1984. The primary immunodeficiencies. N. Engl. J. Med. 311:300.
2. Fischer, A. 1992. Severe combined immunodeficiencies. Immunodefic. Rev. 3:83.
3. Noguchi, M., H. Yi, H. M. Rosenblatt, A. H. Fillpovich, S. Adelstein, W. S. Modi, O. W. McBride, and W. J. Leonard. 1993. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73:147.
4. Steimle, V., L. A. Otten, M. Zufferey, and B. Mach. 1993. Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell 75:135.
5. Chan, A. C., T. A. Kadlecek, M. E. Elder, A. H. Filipovich, W. L. Kuo, M. Iwashima, T. G. Parslow, and A. Weiss. 1994. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Science 264: 1599.
6. Elder, M. E., D. Lin, J. Clever, A. C. Chan, T. J. Hope, A. Weiss, and T. G. Parslow. 1994. Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science 264:1596.
7. + thymic selection in humans lacking zap-70 kinase. Cell 76:947.
8. Bosma, G. C., R. P. Custer, and M. J. Bosma. 1983. A severe combined immunodeficiency mutation in the mouse. Nature 301:527.
9. Malynn, B. A., T. K. Blackwell, G. M. Fulop, G. A. Rathbun, A. J. Furley, P. Ferrier, L. B. Heinke, R. A. Phillips, G. D. Yancopoulos, and F. W. Alt. 1988. The scid defect affects the final step of the immunoglobulin VDJ recombinase mechanism. Cell 54:453.
10. Schwarz, K., H. T. Hansen, C. Knobloch, W. Friedrich, E. Kleihauer, and C. R. Bartram. 1991. Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus. J. Exp. Med. 174:1039.
11. Fulop, G. M., and R. A. Phillips. 1990. The scid mutation in mice causes a general defect in DNA repair. Nature 347:479.
12. Cavazzana, C. M., D. F. Le, S. B. G. De, D. Papadopoulo, V. J. De, and A. Fischer. 1993. Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency. J. Clin. Invest. 91:1214.
13. Tonegawa, S. 1983. Somatic generation of antibody diversity. Nature 302:575.
14. Alt, F., E. Oltz, F. Young, J. Gorman, G. Taccioli, and J. Chen. 1992. VDJ recombination. Immunol. Today 13:306.
15. Mombaerts, P., J. Iacomini, R. S. Johnson, K. Herrup, S. Tonegawa, and V. E. Papaioannou. 1992. RAG-1-deficient mice have no mature B and T lymphocytes. Cell 68:869.
16. Shinkai, Y., G. Rathbun, K. P. Lam, E. M. Oltz, V. Stewart, M. Mendelsohn, J. Charron, M. Datta, F. Young, A. M. Stall, and F. W. Alt. 1992. RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell 68:855.
17. Young, F., A. M. Stall, and F. W. Alt. 1992. RAG-2 deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell 68:885.
18. Blackwell, T. K., B. A. Malynn, R. R. Pollock, P. Ferrier, L. R. Covey, G. M. Fulop, R. A. Phillips, G. D. Yancopoulos, and F. W. Alt. 1989. Isolation of scid pre-B cells that rearrange kappa light chain genes: formation of normal signal and abnormal coding joins. EMBO J. 8:735.
19. Hendrickson, E. A., M. S. Schlissel, and D. T. Weaver. 1990. Wild-type V(D)J recombination in scid pre-B cells. Mol. Cell. Biol. 10:5397.
20. Harrington, J., C. L. Hsieh, J. Gerton, G. Bosma, and M. R. Lieber. 1992. Analysis of the defect in DNA end joining in the murine scid mutation. Mol. Cell. Biol. 12:4758.
21. Roth, D. B., P. B. Nakajima, J. P. Menetski, M. J. Bosma, and M. Gellert. 1992. V(D)J recombination in mouse thymocytes: double-strand breaks near T cell receptor delta rearrangement signals. Cell 69:41.
22. Roth, D. B., J. P. Menetski, P. B. Nakajima, M. J. Bosma, and M. Gellert. 1992. V(D)J recombination: broken DNA molecules with covalently sealed (hairpin) coding ends in scid mouse thymocytes. Cell 70:983.
23. Lewis, S. M. 1994. P nucleotide insertions and the resolution of hairpin DNA structures in mammalian cells. Proc. Natl. Acad. Sci. USA 91:1332.
24. Kim, M., W. Schuler, M. Bosma, and K. Marcu. 1988. Abnormal recombination of Igh D and J gene segments in transformed pre-B cells of SCID mice. J. Immunol. 141:1341.
25. Okazaki, K., S. Nishikawa, and H. Sakano. 1988. Aberrant immunoglobulin gene rearrangement in SCID mouse bone marrow cells. J. Immunol. 141:1348.
26. Lieber, M. R., J. E. Hesse, S. Lewis, G. C. Bosma, N. Rosenberg, K. Mizuuchi, M. J. Bosma, and M. Gellert. 1988. The defect in murine severe combined immune deficiency: joining of signal sequences but not coding segments in V(D)J recombination. Cell 55:7.
27. Lafaille, J. J., A., DeCloux, M. Bonneville, Y. Takagaki, and S. Tonegawa. 1989. Junctional sequences of T cell receptor gamma delta genes: implications for gamma delta T cell lineages and for a novel intermediate of V-(D)-J joining. Cell 59:859.
28. Lieber, M. R., J. E. Hesse, K. Mizuuchi, and M. Gellert. 1988. Lymphoid V(D)J recombination: nucleotide insertion at signal joints as well as coding joints. Proc. Natl. Acad. Sci. USA 85:8588.
29. French, D. L., R. Laskov, and M. D. Scharff. 1989. The role of somatic hypermutation in the generation of antibody diversity. Science 244:1152.
30. Feeney, A. J. 1990. Lack of N regions in fetal and neonatal mouse immunoglobulin V-D-J junctional sequences. J. Exp. Med. 172:1377.
31. Minegishi, Y., H. Okawa, K. Sugamura, and J. Yata. 1994. Preferential utilization of the immature JH segment and the absence of somatic mutation in CDR3 junction of Ig H chain gene in three X-linked severe combined immunodeficiency patients. Int. Immunol. 6:1709.
32. Minegishi, Y., N. Ishii, H. Maeda, S. Takagi, M. Tsuchida, H. Okawa, K. Sugamura, and J. Yata. 1995. Three novel mutations in the interleukin-2 receptor gamma chain gene in four Japanese patients with X-linked severe combined immunodeficiency. Hum. Genet. 96:681.
33. Minegishi, Y., N. Ishii, H. Tsuchida, M. Okawa, K. Sugamura, and J. Yata. 1995. T cell reconstitution by haploidentical BMT does not restore the diversification of the Ig heavy chain gene in patients with X-linked SCID. Bone Marrow Transplant. 16:801.
34. Rosen, F. S. 1992. Primary immunodeficiency diseases: report of a WHO scientific group. Immunodefic. Rev. 3:195.
35. Morio, T., M. Nagasawa, S. Nonoyama, H. Okawa, and J. Yata. 1990. Phenotypic profile and functions of T cell receptor-γδ-bearing cells from patients with primary immunodeficiency syndrome. J. Immunol. 144:1270.
36. Allen, R. C., H. Y. Zoghbi, A. B. Moseley, H. M. Rosenblatt, and J. W. Belmont. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am. J. Hum. Genet. 51:1229.
37. Conley, M. E. 1992. Molecular approaches to analysis of X-linked immunodeficiencies. Annu. Rev. Immunol. 10:215.
38. Roux, E., C. Helg, B. Chapuis, M. Jeannet, and E. Roosnek. 1992. Evolution of mixed chimerism after allogeneic bone marrow transplantation as determined on granulocytes and mononuclear cells by the polymerase chain reaction. Blood 79:2775.
39. Yamada, M., R. Wasserman, B. A. Reichard, S. Shane. A. J. Caton, and G. Rovera. 1991. Preferential utilization of specific immunoglobulin heavy chain diversity and joining segments in adult human peripheral blood B lymphocytes. J. Exp. Med. 173:395.
40. Schroeder, H. J., and J. Y. Wang. 1990. Preferential utilization of conserved immunoglobulin heavy chain variable gene segments during human fetal life. Proc. Natl. Acad. Sci. USA 87:6146.
41. Nickerson, K. G., I. Berman, E. Glickman, L. Chase, and F. W. Alt. 1989. Early human IgH gene assembly in Epstein-Barr virus-transformed fetal B cell line: preferential utilization of the most JH-proximal D segment (DQ52) and two unusual VH-related rearrangements. J. Exp. Med. 169:1391.
42. Meek, K. 1990. Analysis of junctional diversity during B lymphocyte development. Science 250:820.
43. Sanz, I. 1991. Multiple mechanisms participate in the generation of diversity of human H chain CDR3 regions. J. Immunol. 147:1720.
44. Bangs, L. A., I. E. Sanz, and J. M. Teale. 1991. Comparison of D, JH, and junctional diversity in the fetal, adult, and aged B cell repertoires. J. Immunol. 146:1996.
45. Kotloff, D. B., M. J. Bosma, and N. R. Ruetsch. 1993. V(D)J recombination in peritoneal B cells of leaky scid mice. J. Exp. Med. 178:1981.
46. Schuler, W., N. R. Ruetsch, M. Amsler, and M. J. Bosma. 1991. Coding joint formation of endogenous T cell receptor genes in lymphoid cells from scid mice: unusual P-nucleotide additions in VJ-coding joints. Eur. J. Immunol. 21:589.
47. Kienker, L. J., W. A. Kuziel, and P. W. Tucker. 1991. T cell receptor gamma and delta gene junctional sequences in SCID mice: excessive P nucleotide insertion. J. Exp. Med. 174:769.
48. Schlissel, M., A. Constantinescu, T. Morrow, M. Baxter, and A. Peng. 1993. Double-strand signal sequence breaks in V(D)J recombination are blunt, 5′-phosphorylated. RAG-dependent, and cell cycle regulated. Genes Dev. 7:2520.
49. Blunt, T., N. J. Finnie, G. E. Taccioli, G. C. Smith, J. Demengeot, T. M. Gottlieb, R. Mizuta, A. J. Varghese, F. W. Alt, P. A. Jeggo, and S. P. Jackson. 1995. Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation. Cell 80: 813.
50. Kirchgessner, C. U., C. K. Patil, J. W. Evans, C. A. Cuomo, L. M. Fried, T. Carter, M. A. Oettinger, and J. M. Brown. 1995. DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect. Science 267:1178.
51. Kurosawa, Y., and S. Tonegawa. 1982. Organization, structure, and assembly of immunoglobulin heavy chain diversity DNA segments. J. Exp. Med. 155:201.
52. Timmers, E., M. Kenter, A. Thompson, M. E. Kraakman, J. E. Berman, F. W. Alt, and R. K. Schuurman. 1991. Diversity of immunoglobulin heavy chain gene segment rearrangement in B lymphoblastoid cell lines from X-linked agamma-globulinemia patients. Eur. J. Immunol. 21:2355.
53. Gu, H., I. Forster, and K. Rajewsky. 1990. Sequence homologies, N sequence insertion and JH gene utilization in VHDJH joining: implications for the joining mechanism and the ontogenelic timing of Ly1 B cell and B-CLL progenitor generation. EMBO J 9:2133.