Direct genetic correction as a new method for diagnosis and molecular characterization of MHC class II deficiency

Molecular Therapy

Volumn 6, Issue 6, 2002, Pages 824-829

  Matheux, Franck ^a   Ikinciogullari, Aydan ^b   Zapata, David A ^c   Barras, Emmanuèle ^a   Zufferey, Madeleine ^a   Dogu, Figen ^b   Regueiro, José R ^c   Reith, Walter ^a   Villard, Jean ^a,d  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b ANKARA UNIVERSITY   (Turkey)

^c UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^d GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Bare lymphocyte syndrome; Diagnostic test; Gene therapy; Human disease; Lentiviral vector; MHC class II deficiency

Indexed keywords

LENTIVIRUS VECTOR; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CIITA; TRANSCRIPTION FACTOR RFX5; TRANSCRIPTION FACTOR RFXANK; TRANSCRIPTION FACTOR RFXAP; UNCLASSIFIED DRUG;

ANTIGEN EXPRESSION; ARTICLE; BARE LYMPHOCYTE SYNDROME; CELL LINE; CONTROLLED STUDY; DIAGNOSTIC TEST; DISEASE CLASSIFICATION; GENE MUTATION; GENETIC CODE; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC TRANSDUCTION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MAJOR HISTOCOMPATIBILITY COMPLEX; PHENOTYPE; REGULATOR GENE; T LYMPHOCYTE;

LENTIVIRUS;

EID: 0036936489     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1006/mthe.2002.0804     Document Type: Article

References (38)

1. Rosen, F. S., et al. (1992). Primary immunodeficiency diseases: Report of a WHO scientific group. Immunodefic. Rev. 3: 195-236.
2. Touraine, J. L., Marseglia, G. L., Betuel, H., Souillet, G., and Gebuhrer, L. (1992). The bare lymphocyte syndrome. Bone Marrow Transplant. 9(Suppl. 1): 54-56.
3. Griscelli, C., Lisowska-Grospierre, B., and Mach, B. (1993). Combined immunodeficiency with defective expression in MHC class II genes. In Immunodeficiencies (F. S. Rosen and M. Seligman, Eds.), pp.141-154. Harwood Academic, Chur, Switzerland.
4. Klein, C., Lisowska Grospierre, B., LeDeist, F., Fischer, A., and Griscelli, C. (1993). Major histocompatibility complex class II deficiency: Clinical manifestations, immunologic features, and outcome. J. Pediatr. 123: 921-928.
5. Villard, J., Masternak, K., Lisowska-Grospierre, B., Fischer, A., and Reith, W. (2001). MHC class II deficiency: A disease of gene regulation. Medicine 80: 405-418.
6. Reith, W., and Mach, B. (2001). The bare lymphocyte syndrome and the regulation of MHC expression. Annu. Rev. Immunol. 19: 331-373.
7. Masternak, K., Muhlethaler-Mottet, A., Villard, J., Peretti, M., and Reith, W. (2000). Molecular genetics of the bare lymphocyte syndrome. Rev. Immunogenet, 2: 267-282.
8. Benichou, B., and Strominger, J. L. (1991). Class II-antigen-negative patient and mutant B-cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis. Proc. Natl. Acad. Sci. USA 88: 4285-4288.
9. Seidl, C., Saraiya, C., Osterweil, Z., Fu, Y. P., and Lee, J. S. (1992). Genetic complexity of regulatory mutants defective for HLA Class-II gene-expression. J. Immunol. 148: 1576-1584.
10. Lisowska-Grospierre, B., Fondaneche, M. C., Rols, M. P., Griscelli, C., and Fischer, A. (1994). Two complementation groups account for most cases of inherited MHC class II deficiency. Hum. Mol. Genet. 3: 953-958.
11. Steimle, V., Otten, L. A., Zufferey, M., and Mach, B. (1993). Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell 75: 135-146.
12. Steimle, V., Siegrist, C.-A., Mottet, A., Lisowska-Grospierre, B., and Mach, B. (1994). Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA. Science 265: 106-109.
13. Muhlethaler-Mottet, A., Otten, L. A., Steimle, V., and Mach, B. (1997). Expression of MHC class II molecules in different cellular and functional compartments is controlled by differential usage of multiple promoters of the transactivator CIITA. EMBO J. 16: 2851-2860.
14. Harton, J. A., and Ting, J. P. (2001). Class II transactivator: Mastering the art of major histocompatibility complex expression. Mol. Cell Biol. 20: 6185-6194.
15. Nagarajan, U. M., et al. (1999). RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. Immunity 10: 153-162.
16. Steimle, V., et al. (1995). A novel DNA binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Dev. 9: 1021-1032.
17. Masternak, K., et al. (1998). A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients Nat. Genet. 20: 273-277.
18. Durand, B., et al. (1997). RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J 16: 1045-1055.
19. Wiszniewski, W., et al. (2001). Mutation in the class II trans-activator leading to a mild immunodeficiency. J. Immunol. 167: 1787-1794.
20. Quan, V., Towey, M., Sacks, S., and Kelly, A. P. (1999). Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA. Immunogenetics 49: 957-963.
21. Villard, J., et al. (2000). A functionally essential domain of RFX5 mediates activation of major histocompatibility complex class II promoters by promoting cooperative binding between RFX and NF-Y. Mol. Cell. Biol. 20: 3364-3376.
22. Peretti, M., Villard, J., Barras, E., Zufferey, M., and Reith, W. (2001). Expression of the three human major histocompatibility complex class II isotypes exhibits a differential dependence on the transcription factor RFXAP. Mol. Cell. Biol. 21: 5699-5709.
23. Naldini, L., et al. (1996). In vivo gene delivery and stable transduction of non dividing cells by a lentiviral vector. Science 272: 263-267.
24. Zufferey, R., Nagy, D., Mandel, R. J., Naldini, L., and Trono, D. (1997). Multiply attenuated lentiviral vector achieves efficient gene delivery in vivo. Nat. Biotechnol. 15: 871-875.
25. + cells with lentiviral vectors enables the production of large quantities of transgene-expressing immature and mature dendritic cells. J. Gene Med. 3: 311-320.
26. Salmon, P., Kindler, V., Ducrey, O., Chapuis, B., Zubler, R. H., and Trono, D. (2000). High-level transgene expression in human hematopoietic progenitors and differentiated blood lineages after transduction with improved lentiviral vectors. Blood 96: 3392-3398.
27. Accolla, R. S. (1983). Human B cell variants immunoselected against a single la antigen subset have lost expression in several la antigen subsets. J. Exp. Med. 157: 1053-1058.
28. Hume, C. R., Shookster, L. A., Collins, N., O'Reilly, R., and Lee, J. S. (1989). Bare lymphocyte syndrome: Altered HLA class II expression in B cell lines derived from two patients. Hum. Immunol. 25: 1-11.
29. Bull, M., van Hoef, A., and Gorski, J. (1990). Transcription analysis of class II human leukocyte antigen genes from normal and immunodeficient B lymphocytes, using polymerase chain reaction. Mol. Cell. Biol. 10: 3792-3796.
30. Gladstone, P., and Pious, D. (1978). Stable variants affecting B cell alloantigens in human lymphoid cells. Nature 271: 459-461.
31. Sirven, A., et al, (2000). The human immunodeficiency virus type-1 central DNA flap is a crucial determinant for lentiviral vector nuclear import and gene transduction of human hematopoietic stem cells. Blood 96: 4103-4110.
32. Nekrep, N., Geyer, M., Jabrane-Ferrat, N., and Peterlin, B. M. (2001). Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome. Mol. Cell. Biol. 21: 5566-5576.
33. Klein, C., et al. (1995). Bone marrow transplantation in major histocompatibility complex class II deficiency: A single-center study of 19 patients. Blood 85: 580-587.
34. Alvarez-Zapata, D., et al. (1998). Phenotypical and functional characterization of herpesvirus saimiri-immortalized human major histocompatibility complex class II-deficient T lymphocytes. Tissue Antigens 51: 250-257.
35. Page, K. A., Landau, N. R., and Littman, D. R. (1990). Construction and use of a human immunodeficiency virus vector for analysis of virus infectivity. J. Virol. 64: 5270-5276.
36. Brown, J. A., He, X. F., Westerheide, S. D., and Boss, J. M. (1996). Characterization of the expressed CIITA allele in the class II MHC transcriptional mutant RJ2.2.5. Immunogenetics 43: 88-91.
37. Charron, D. J., and McDevitt, H. O. (1979). Analysis of HLA-D region-associated molecules with monoclonal antibody. Proc. Natl. Acad. Sci. USA 76: 6567-6571.
38. Villard, J., et al. (1997). Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. Hum. Mutat. 10: 430-435.