Intrinsic defects of B cell function in X-linked severe combined immunodeficiency

European Journal of Immunology

Volumn 30, Issue 3, 2000, Pages 732-737

  White, Harry ^a   Thrasher, Adrian ^a   Veys, Paul ^b   Kinnon, Christine ^a   Gaspar, Hubert B ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Gt Ormond Street Hospital NHS Trust ^*  (United Kingdom)

Author keywords

B cell repertoire; Class switching; Gamma chain; Immunodeficiency

Indexed keywords

ARTICLE; B LYMPHOCYTE; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUMAN CELL; HUMORAL IMMUNITY; LYMPHOCYTE CLONE; LYMPHOCYTE FUNCTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; T LYMPHOCYTE; X CHROMOSOME LINKAGE;

B-LYMPHOCYTES; BASE SEQUENCE; CHILD, PRESCHOOL; DNA PRIMERS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IMMUNOGLOBULIN GAMMA-CHAINS; IMMUNOGLOBULIN SWITCH REGION; INFANT; LINKAGE (GENETICS); SEVERE COMBINED IMMUNODEFICIENCY; TRANSPLANTATION CONDITIONING; X CHROMOSOME;

EID: 0033998583     PISSN: 00142980     EISSN: None     Source Type: Journal    
DOI: 10.1002/1521-4141(200003)30:3<732::AID-IMMU732>3.0.CO;2-L     Document Type: Article

References (26)

1. Noguchi, M., Nakamura, Y., Russell, S. M., Ziegler, S. F., Tsang, M., Cao, X. and Leonard, W. J., Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor. Science 1993. 262: 1877-1880.
2. Noguchi, M., Yi, H., Rosenblatt, H. M., Filipovich, A. H., Adelstein, S., Modi, W. S., McBride, O. W. and Leonard, W. J., Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993. 73: 147-157.
3. Takeshita, T., Asao, H., Ohtani, K., Ishii, N., Kumaki, S., Tanaka, N., Munakata, H., Nakamura, M. and Sugamura, K., Cloning of the gamma chain of the human IL-2 receptor. Science 1992. 257: 379-382.
4. Russell, S. M., Johnston, J. A., Noguchi, M., Kawamura, M., Bacon, C. M., Friedmann, M., Berg, M., McVicar, D. W., Witthuhn, B. A., Silvennoinen, O., Goldman, A. S., Schmalstieg, F. C., Ihle, J. N., O'Shea, J. J. and Leonard, W. J., Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID. Science 1994. 266: 1042-1045.
5. Russell, S. M., Keegan, A. D., Harada, N., Nakamura, Y., Noguchi, M., Leland, P., Friedmann, M. C., Miyajima, A., Puri, R. K., Paul, W. E. and Leonard, W. J., Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor. Science 1993. 262: 1880-1883.
6. Giri, J. G., Ahdieh, M., Eisenman, J., Shanebeck, K., Grabstein, K., Kumaki, S., Namen, A., Park, L. S., Cosman, D. and Anderson, D., Utilization of the beta and gamma chains of the IL-2 receptor by the novel cytokine IL-15. EMBO J. 1994. 13: 2822-2830.
7. Stephan, J. L., Vlekova, V., Le Deist, F., Blanche, S., Donadieu, J., De Saint Basile, G., Durandy, A., Griscelli, C. and Fischer, A., Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J. Pediatr. 1993. 123: 564-572.
8. Buckley, R. H., Schiff, R. I., Schiff, S. E., Markert, M. L., Williams, L. W., Harville, T. O., Roberts, J. L. and Puck, J. M., Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J. Pediatr. 1997. 130: 378-387.
9. Fischer, A., Landais, P., Friedrich, W., Morgan, G., Gerritsen, B., Fasth, A., Porta, F., Griscelli, C., Goldman, S. F., Levinsky, R. and Vossen, J., European experience of bone-marrow transplantation for severe combined immunodeficiency. Lancet 1990. 336: 850-854.
10. Buckley, R. H., Schiff, S. E., Schiff, R. I., Markert, L., Williams, L. W., Roberts, J. L., Myers, L. A. and Ward, F. E., Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N. Engl. J. Med. 1999. 340: 508-516.
11. Veys, P. A., Meral, A., Hassan, A., Goulden, N., Webb, D. and Davies, G., Haploidentical related transplants and unrelated donor transplants with T cell addback. Bone Marrow Transplant. 1998. 21 Suppl 2: S42-S44.
12. van Leeuwen, J. E., van Tol, M. J., Joosten, A. M., Schellekens, P. T., van den Berg, R. L., Waaijer, J. L., Oudeman, G. N., van der Weijden-Ragas, C. P., Roos, M. T., Gerritsen, E. J., Haraldsson, A., Meera Khan, P. and Vossen, J. M., Relationship between patterns of engraftment in peripheral blood and immune reconstitution after allogeneic bone marrow transplantation for (severe) combined immunodeficiency. Blood 1994. 84: 3936-3947.
13. Bertrand, Y., Landais, P., Friedrich, W., Gerritsen, B., Morgan, G., Fasth, A., Cavazzana, C. M., Porta, F., Cant, A., Espanol, T., Muller, S., Veys, P., Vossen, J., Haddad, E. and Fischer, A., Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantation: a retrospective European survey from the European group for bone marrow transplantation and the european society for immunodeficiency. J. Pediatr. 1999. 134: 740-748.
14. Haddad, E., Landais, P., Friedrich, W., Gerritsen, B., Cavazzana, C. M., Morgan, G., Bertrand, Y., Fasth, A., Porta, F., Cant, A., Espanol, T., Muller, S., Veys, P., Vossen, J. and Fischer, A., Long-term immune reconstitution and outcome after HLA-nonidentical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: a European retrospective study of 116 patients. Blood 1998. 91: 3646-3653.
15. Dror, Y., Gallagher, R., Wara, D. W., Colombe, B. W., Merino, A., Benkerrou, M. and Cowan, M. J., Immune reconstitution in severe combined immunodeficiency disease after lectin-treated, T-cell-depleted haplocompatible bone marrow transplantation. Blood 1993. 81: 2021-2030.
16. Haddad, E., Deist, F. L., Cavazzana, C. M., Blanche, S., Basile, G. D. and Fischer, A., Long-Term Chimerism and B-Cell Function After Bone Marrow Transplantation in Patients With Severe Combined immunodeficiency with B Cells: A Single-Center Study of 22 Patients. Blood 1999. 94: 2923-2930.
17. Minegishi, Y., Ishii, N., Tsuchida, M., Okawa, H., Sugamura, K. and Yata, J., 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. 1995. 16: 801-806.
18. Minegishi, Y., Okawa, H., Sugamura, K. and Yata, J., Preferential utilization of the immature JH segment and absence of somatic mutation in the CDR3 junction of the Ig H chain gene in three X-linked severe combined immunodeficiency patiens. Int. Immunol. 1994. 6: 1709-1715.
19. Taylor, N., Candotti, F., Smith, S., Oakes, S. A., Jahn, T., Isakov, J., Puck, J. M., O'Shea, J. J., Weinberg, K. and Johnston, J. A., Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency. J. Biol. Chem. 1997. 272: 7314-7319.
20. Izuhara, K., Heike, T., Otsuka, T., Yamaoka, K., Mayumi, M., Imamura, T., Niho, Y. and Harada, N., Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients. J. Biol. Chem. 1996. 271: 619-622.
21. Matthews, D. J., Clark, P. A., Herbert, J., Morgan, G., Armitage, R. J., Kinnon, C., Minty, A., Grabstein, K. H., Caput, D., Ferrara, P. and Callard, R. E., Function of the interleukin-2 (IL-2) receptor gamma-chain in biologic response of X-linked severe combined immunodeficient B cells to IL-2, IL-4, IL-13, and IL-15. Blood 1995. 85: 38-42.
22. White, H. N., Restriction-PCR fingerprinting of the immunoglobulin VH repertoire: direct detection of an immune response and global analysis of B cell clonality. Eur. J. Immunol. 1998. 28: 3268-3279.
23. Stephan, J. L., Vlekova, V., Le Deist, F., De Saint Basile, G., Donadieu, J., Durandy, A., Blanche, S., Griscelli, C. and Fischer, A., A retrospective single-center study of clinical presentation and outcome in 117 patients with severe combined immunodeficiency. Immunodeficiency 1993. 4: 87-88.
24. Conley, M. E., Lavoie, A., Briggs, C., Brown, P., Guerra, C. and Puck, J. M., Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency. Proc. Natl. Acad. Sci. USA 1988. 85: 3090-3094.
25. Coffman, R. L. and Carty, J., A T cell activity that enhances polyclonal IgE production and its inhibition by interferon-gamma. J. Immunol. 1986. 136: 949-954.
26. Matthews, D. J., Hibbert, L., Friedrich, K., Minty, A. and Callard, R. E., X-SCID B cell responses to interleukin-4 and interleukin-13 are mediated by a receptor complex that includes the interleukin-4 receptor alpha chain (p140) but not the gamma c chain. Eur. J. Immunol. 1997. 27: 116-121.