Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency

New England Journal of Medicine

Volumn 337, Issue 11, 1997, Pages 748-753

  Villard, Jean ^a   Lisowska Grospierre, Barbara ^b   Van Den Elsen, Peter ^c   Fischer, Alain ^b   Reith, Walter ^a   Mach, Bernard ^a  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; TRANSACTIVATOR PROTEIN;

ANTIGEN EXPRESSION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; PRIORITY JOURNAL;

CELL LINE; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; GENES, MHC CLASS II; HISTOCOMPATIBILITY ANTIGENS CLASS II; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; NUCLEAR PROTEINS; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS; TRANSFECTION;

EID: 0030876295     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199709113371104     Document Type: Article

References (30)

1. Rosen FS, Cooper MD, Wedgwood RJP. The primary immunodeficiencies. N Engl J Med 1995;333:431-40.
2. Griscelli C, Lisowska-Grospierre B, Mach B. Combined immunodeficiency with defective expression in MHC class II genes. In: Gupta S, Griscelli C, eds. New concepts in immunodeficiency diseases. Chichester, England: John Wiley, 1993:177-90.
3. Klein C, Lisowska-Grospierre B, LeDeist F, Fischer A, Griscelli C. Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome. J Pediatr 1993;123:921-8.
4. de Preval C, Lisowska-Grospierre B, Loche M, Griscelli C, Mach B. A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes. Nature 1985;318:291-3.
5. Mach B, Steimle V, Martinez-Soria E, Reith W. Regulation of MHC class II genes: lessons from a disease. Annu Rev Immunol 1996;14:301-31.
6. Benichou B, Strominger JL. 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 U S A 1991;88:4285-8.
7. Seidl C, Saraiya C, Osterweil Z, Fu YP, Lee JS. Genetic complexity of regulatory mutants defective for HLA class II gene expression. J Immunol 1992;148:1576-84.
8. Lisowska-Grospierre B, Fondaneche MC, Rols MP, Griscelli C, Fischer A. Two complementation groups account for most cases of inherited MHC class II deficiency. Hum Mol Genet 1994;3:953-8.
9. Glimcher LH, Kara CJ. Sequences and factors: a guide to MHC class-II transcription. Annu Rev Immunol 1992;10:13-49.
10. Steimle V, Otten LA, Zufferey M, Mach B. Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). Cell 1993;75:135-46.
11. Steimle V, Siegrist C, Mottet A, Lisowska-Grospierre B, Mach B. Regulation of MHC class II expression by interferon-gamma mediated by the transactivator gene CIITA. Science 1994;265:106-9.
12. Steimle V, Durand B, Barras E, et al. A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). Genes Dev 1995;9:1021-32.
13. Durand B, Sperisen P, Emery P, et al. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J 1997;16:1045-55.
14. Muhlethaler-Mottet A, Otten LA, Steimle V, Mach B. 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 1997;16:2851-60.
15. Peijnenburg A, Godthelp B, van Boxel-Dezaire A, van den Elsen PJ. Definition of a novel complementation group in MHC class II deficiency. Immunogenetics 1995;41:287-94.
16. Touraine JL, Betuel H, Souillet G, Jeune M. Combined immunodeficiency disease associated with absence of cell-surface HLA-A and B antigens. J Pediatr 1978;93:47-51.
17. Touraine JL, Bétuel H. Immunodeficiency diseases and expression of HLA antigens. Hum Immunol 1981;2:147-53.
18. Amaldi I, Reith W, Berte C, Mach B. Induction of HLA class II genes by IFN-gamma is transcriptional and requires a trans-acting protein. J Immunol 1989;142:999-1004.
19. Cheng YS, Becker-Manley MF, Nguyen TD, DeGrado WF, Jonak GJ. Nonidentical induction of the guanylate binding protein and the 56K protein by type I and type II interferons. J Interferon Res 1986;6:417-27.
20. Kumar V, Chambon P. The estrogen receptor binds tightly to its responsive element as a ligand-induced homodimer. Cell 1988;55:145-56.
21. Durand B, Kobr M, Reith W, Mach B. Functional complementation of major histocompatibility complex class II regulatory mutants by the purified X-box-binding protein RFX. Mol Cell Biol 1994;14:6839-47.
22. Reith W, Siegrist CA, Durand B, Barras E, Mach B. Function of major histocompatibility complex class II promoters requires cooperative binding between factors RFX and NF-Y. Proc Natl Acad Sci U S A 1994; 91:554-8.
23. Reith W, Satola S, Sanchez CH, et al. Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X. Cell 1988;53:897-906.
24. Reith W, Kobr M, Emery P, Durand B, Siegrist CA, Mach B. Cooperative binding between factors RFX and X2bp to the X and X2 boxes of MHC class II promoters. J Biol Chem 1994;269:20020-5.
25. Wilkinson M. A rapid and convenient method for isolation of nuclear, cytoplasmic and total cellular RNA. Nucleic Acids Res 1988;16: 10934.
26. Villard J, Reith W, Barras E, et al. Chromosomal localization of the gene encoding RFX5, a novel transcription factor that is mutated in major histocompatibility complex class II deficiency. Hum Mutat (in press).
27. Gyapay G, Schmitt K, Fizames C, et al. A radiation hybrid map of the human genome. Hum Mol Genet 1996;5:339-46.
28. Hauber I, Gulle H, Wolf HM, Maris M, Eggenbauer H, Eibl MM. Molecular characterization of major histocompatibility complex class II gene expression and demonstration of antigen-specific T cell response indicate a new phenotype in class-II deficient patients. J Exp Med 1995;181: 1411-23.
29. Wolf HM, Hauber I, Gulle H, et al. Twin boys with major histocompatibility complex class II deficiency but inducible immune responses. N Engl J Med 1995;332:86-90.
30. Klein C, Cavazzana-Calvo M, Le Deist F, et al. Bone marrow transplantation in major histocompatibility complex class II deficiency: a single-center study of 19 patients. Blood 1995;85:580-7.