Genetic and molecular definition of complementation group D in MHC class II deficiency

Human Molecular Genetics

Volumn 7, Issue 5, 1998, Pages 879-885

  Fondaneche, Marie Claude ^d   Villard, Jean ^a   Wiszniewski, Wojciech ^d   Jouanguy, Emmanuelle ^d   Etzioni, Amos ^b   Le Deist, Françoise ^d   Peijnenburg, Ad ^c   Casanova, Jean Laurent ^d   Reith, Walter ^a   Mach, Bernard ^a   Fischer, Alain ^d   Lisowska Grospierre, Barbara ^d  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b RAMBAM MEDICAL CENTER   (Israel)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HLA DR ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; MEMBRANE ANTIGEN;

ARTICLE; CELL MUTANT; CLINICAL ARTICLE; CONTROLLED STUDY; GENE EXPRESSION; GENETIC COMPLEMENTATION; HUMAN; HUMAN CELL; MOLECULAR CLONING; PRIORITY JOURNAL;

ANTIGENS, DIFFERENTIATION, B-LYMPHOCYTE; B-LYMPHOCYTES; CELL LINE; DNA-BINDING PROTEINS; FIBROBLASTS; GENE EXPRESSION; GENES, MHC CLASS II; GENETIC COMPLEMENTATION TEST; HISTOCOMPATIBILITY ANTIGENS CLASS II; HLA-D ANTIGENS; HUMANS; MUTATION; TRANSFECTION;

EID: 7144261730     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.5.879     Document Type: Article

References (25)

1. Glimcher, L.H. and Kara, C.J. (1992) Sequences and factors: a guide for MHC class II transcription. Annu. Rev. Immunol., 10, 13-50.
2. Benacerraf, B. (1981) Role of MHC class II products in immune regulation. Science, 212, 1229-1238.
3. Griscelli, C., Lisowska-Grospierre, B. and Mach, B. (1989) Combined immunodeficiency with defective expression in MHC class II genes. Immunodeficiency Rev., 1, 135-143.
4. Lisowska-Grospierre, B., Durandy, A., Virelizier, J.L., Fischer, A. and Griscelli, C. (1983) Combined immunodeficiency with defective expression of HLA antigens: modulation of an abnormal HLA and functional studies. Birth Defects, 19, 87-92.
5. de Préval, C., Lisowska-Grospierre, B., Loche, M., Griscelli, C. and Mach, B. (1985) A transactive class II regulatory gene unlinked to MHC controls expression of HLA II genes. Nature, 318, 291-293.
6. Hume, C.R. and Lee, J.S. (1989) Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes results from distinct mutations in trans-acting factors. Hum. Immunol., 26, 288-309.
7. Bénichou, 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.
8. 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.
9. Steimle, V., Durand, B., Barras, E. 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.
10. Durand, B., Sperisen, P., Emery, P. et al. (1997) RFXAP. a novel subunit of the DNA-binding complex is mutated in MHC class II deficiency. EMBO J., 16, 1045-1055.
11. Moreno, C.S., Rogers, E.M., Brown, J.A. and Boss, J.M. (1997) Regulatory factor X, a Bare Lymphocyte Syndrome transcription factor, is a multimeric phosphoprotein. J. Immunol., 158, 5841-5848.
12. Moreno, C.S., Emery, P., West, J.E. et al. (1995) Purified X2 binding protein (X2BP) cooperatively binds the class II MHC X box region in the presence of RFX, the X box factor deficient in the bare lymphocyte syndrome. J. Immunol., 155, 4313-4321.
13. Reith, W., Kobr, M., Emery, P., Durand, B., Siegrist, C.-A. and Mach, B. (1994) Cooperative binding between factors RFX and X2BP to the X and X2 boxes of MHC class II promoters. J. Biol. Chem., 269, 20020-20025.
14. Reith, W., Siegrist, C.A., Durand, B., Barras, E. and Mach, B. (1994) Function of major histocompatibility complex promoters requires cooperative binding between factors RFX and NF-Y. Proc. Natl Acad. Sci. USA, 91, 554-558.
15. Lisowska-Grospierre, B., Fondaneche, M.-C., Rois, M.-P., Griscelli, C. and Fischer, A. (1994) Two complementation groups account for most cases in inherited MHC class II deficiency. Hum. Mol. Genet., 3, 953-958.
16. Peijninburg, A., Godthelp, B., Van Boxel-Dezaire, A. and van den Elsen, P.J. (1995) Definition of a novel complementation group in MHC class II deficiency, Immunogenetics, 41, 287-294.
17. Villard, J., Lisowska-Grospierre, B., van den Elsen, P., Fischer, A., Reith, W. and Mach, B. (1997) Mutations in RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. N. Engl. J. Med., 337, 748-753.
18. Douhan, J., Hauber, I., Eibl, M.M. and Glimcher, L.H. (1996) Genetics evidence of new type major histocompatibility complex class II combined immunodeficiency characterized by dyscoordinate regulation of HLA-A α and β chains. J. Exp. Med., 183, 1063-1069.
19. Wolf, H.M., Hauber, I., Gulle, H. et al. (1995) Twin boys with major histocompatibility complex class II deficiency but inducible immune responses. N. Engl. J. Md., 332, 86-90.
20. Cooper, D.N. and Krawczak, M. (1991) Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum. Genet., 87, 409-415.
21. Charron, D. and David. M. (1979) Analysis of HLA-D region-associated molecules with monoclonal antibody. Proc. Natl Acad. Sci. USA, 76, 8567-8571.
22. 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.
23. Chomczynski, P. and Sacchi, N. (1987) Single-step method of RNA isolation by acid-guanidium-thiocyanate-phenol-chlorophorm extraction. Anat. Biol., 162, 156-159.
24. Vedrenne, J.A.E., Pereno, R., Bouzinba-Segard, H., Azzarone, B., Jasmin, C., Charron, D. and Krief, P. (1997) Inhibitor (IK) of INF-γ induced HLA class II expression also inhibits HLA class II constitutive expression in the human Raji B cell line. Oncogenesis, 14, 1453-1461.
25. Hauber, I., Gulle, H., Wolf, H.M., Maris, M., Eggenbauer, H. and Eibl, M.M. (1995) Molecular characterization of major histocompatibility complex class II gene expression and demonstration of antigen-specific class II response indicate a new phenotype in class II-deficient patients. J. Exp. Med., 181, 1411-1423.