In a novel form of IFN-γ receptor 1 deficiency, cell surface receptors fail to bind IFN-γ

Journal of Clinical Investigation

Volumn 105, Issue 10, 2000, Pages 1429-1436

  Jouanguy, Emmanuelle ^a,b   Dupuis, Stéphanie ^a,b   Pallier, Annaïck ^b   Döffinger, Rainer ^a,b   Fondanèche, Marie Claude ^b   Fieschi, Claire ^a,b   Lamhamedi Cherradi, Salma ^b   Altare, Frédéric ^a,b   Emile, Jean François ^c   Lutz, Patrick ^d   Bordigoni, Pierre ^e   Cokugras, Haluk ^f   Akcakaya, Necla ^f   Landman Parker, Judith ^g   Donnadieu, Jean ^g   Camcioglu, Yildiz ^f   Casanova, Jean Laurent ^a,b  

^a Institut Necker   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL PAUL BROUSSE   (France)

^d HÔPITAL DE HAUTEPIERRE   (France)

^e HÔPITAL D ENFANTS   (France)

^f ISTANBUL UNIVERSITY   (Turkey)

^g ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON; GAMMA INTERFERON RECEPTOR;

ARTICLE; BONE MARROW TRANSPLANTATION; CHILD; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IMMUNE DEFICIENCY; MALE; MYCOBACTERIOSIS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEFICIENCY; PROTEIN PROTEIN INTERACTION;

EID: 0034067449     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI9166     Document Type: Article

References (43)

1. McKusick, V.A. 1998. Mendelian inheritance in man: a catalog of human genes and genetic disorders. 12th edition. The Johns Hopkins University Press. Baltimore, Maryland, USA. 1930pp.
2. Casanova, J.L., Newport, M., Fischer, A., and Levin, M. 1999. Inherited Interferon gamma receptor deficiency. In Primary immunodeficiency diseases. H.D. Ochs, C.I.E. Smith, and J.M. Puck, editors. Oxford University Press. New York, New York. USA. 209-221.
3. Jouanguy, E., et al. 1996. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N. Engl. J. Med. 335:1956-1961.
4. Vesterhus, P., Holland, S.M., Abrahamsen, T.G., and Bjerknes, R. 1998. Familial disseminated infection due to atypical mycobacteria with childhood onset. Clin. Infect. Dis. 27:822-825.
5. Holland, S.A., et al. 1998. Abnormal regulation of interferon gamma, interleukin 12, and tumor necrosis factor alpha in interferon gamma receptor 1 deficiency. J. Infect. Dis. 178:1095-1104.
6. Roesler, J., et al. 1999. Recurrent mycobacterial and Listeria infections in a child with interferon γ receptor deficiency: mutational analysis and evaluation of therapeutic options. Exp. Hematol. 27:1368-1374.
7. Newport, M.J., et al. 1996. A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N. Engl. J. Med. 335:1941-1949.
8. Pierre-Audigier, C., et al. 1997. Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon gamma receptor deficiency. Clin. Infect. Dis. 24:982-984.
9. Jouanguy, E., Altate, F., Lamhamedi-Cherradi, S., and Casanova, J.L. 1997. Infections in IFNGR-1-deficient children. J. Interferon Cytokine Res. 17:583-587.
10. Dorman, S. E., et al. 3999. Viral infections in interferon-γ receptor deficiency. J. Pediatr. 135:640-643.
11. Altare, F., et al. 1998. A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNγ in a compound heterozygous child. Am. J. Hum. Genet, 62:723-726.
12. Levin, M., et al. 1995. Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene? Lancet. 345:79-83.
13. Jouanguy, E., et al. 1997 Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. J. Clin. Invest. 100:2658-2664.
14. Emile, J.F., et al. 1997. Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection. J. Pathol. 181:25-30,
15. Casanova, J.L., Jouanguy, E., Lamhamedi, S., Blanche, S., and Fischer, A. 1995. Immunological conditions of children with BCG disseminated infection. Lancet. 346:581.
16. 1997. Primary immunodeficiency diseases. Report of a WHO Scientific Group. Clin. Exp. Immunol. 109(Suppl. 1):1-28.
17. Jouanguy, E., et al. 1999. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection, Nat. Genet. 21:370-378.
18. Sheehan, K.C.F., Calderon, J., and Schreiber, R.D. 1988. Generation and characterization of monoclonal antibodies specific for the human IFNγ receptor. J. Immunol. 140:4231-4237.
19. Garotta, G., et al. 1990. Human interferon-γ receptor. Mapping of epitopes recognized by neutralizing antibodies using native and recombinant receptor proteins. J. Biol. Chem. 265:6908-6915.
20. Aguet, M., and Merlin, G. 1987. Purification of human γ interferon receptors by sequential affinity chromatography on immobilized monoclonal antireceptor antibodies and human γ interferon. J. Exp. Med. 165:988-999.
21. Novick, D., Fischer, D.G., Reiter, Z., Eshhar, Z., and Rubinstein, M. 1989. Monoclonal antibodies to the human interferon-gamma receptor: blocking of the biological activities of interferon-gamma and purification of the receptor. J. Interferon Res. 9:315-328.
22. Watzka, H., Pfizenmaier, K., and Moosmayer, D. 1998. Guided selection of antibody fragments specific for human Interferon gamma receptor 1 from a human VH- and VL-gene repertoire. Immunotechnology 3:279-291.
23. Celada, A., Allen, R., Esparza, I., Gray, P.W., and Schreiber, R.D. 1985. Demonstration and partial characterization of the interferon-gamma receptor on human mononuclear phagocytes. J. Clin. Invest. 76:2196-2205.
24. Greenlund, A.C., Farrar, M.A., Viviano, B.L., and Schreiber, R.D. 1994. Ligand-induced IFN gamma receptor tyrosine phosphorylanon couples the receptor to its signal transduction system (p91). EMBO J. 13:1591-1600.
25. Aguet, M., Dembic, Z., and Merlin, G. 1988. Molecular cloning and expression of the human IFNγ receptor. Cell. 55:273-280.
26. Merlin, G., et al. 1997. The gene for the ligand-binding chain of the human IFNγ receptor. Immunogenetics. 45:413-421.
27. Beaudet, A.L., and Tsui, L.C. 1993. A suggested nomenclature for designating mutations. Hum. Mutat. 2:245-248.
28. Walter, M.R., et al. 1995. Crystal structure of a complex between interferon-γ and its soluble high-affinity receptor. Nature. 376:230-235.
29. Altare, F., et al. 1998. Mendelian susceptibility to mycobacterial infections in man. Curr. Opin. Immunol. 10:413-417.
30. Lamhamedi, S. Jouanguy, E., Altare, F., Roesler, J., and Casanova, J. L. 1998. Interferon gamma receptor deficiency: relationship between genotype, environment, and phenotype. Int. Mol. Med. 1:415-418.
31. Ottenhoff, T., Kumararatne, D., and C'asanova, J.L. 1998. Novel immunodeficiencies reveal the essential role of type I cytokines in immunity to intracellular bacteria. Immunol. Today. 19:491-494.
32. Jouanguy, E., et al. 1999. IL-12 and IFN-γ in host defense against mycobacteria and Salmonella in mice and men. Curr. Opin. Immunol. 11:346-351.
33. Axelrod, A., Gibbs, V.C., and Goeddel, D.V. 1994. The interferon-γ receptor extracellular domain. Non-identical requirements for ligand binding and signaling. J. Biol. Chem. 269:15533-15539.
34. Chene, C., et al. 1995. Crystallization of the complex of human IFN-gamma and the extracellular domain of the IFN-gamma receptor. Proteins. 23:591-594.
35. Randal, M., and Kossiakoff, A.A. 1998. Crystallization and preliminary x-ray analysis of a 1:1 complex between a designed monomeric interferon-gamma and its soluble receptor. Protein Sci. 7:1057-1060
36. Stuber, D., Friedlein, A., Fountoulakis, M., Lahm, H.W., and Garotra, G. 1993. Alignment of disulfide bonds of the extracellular domain of the interferon gamma receptor and investigation of their role in biological activity. Biochemistry. 32:2423-2430.
37. Bridges, A., et al. 1996. Production and characterization of anti-human interferon gamma receptor antibody fragments that inhibit cytokine binding to the receptor. Protein Eng. 9:365-370.
38. Williams, G., et al. 1995. Dissection of the extracellular human interferon gamma receptor alpha-chain into two immunoglobulin-like domains. Production in an Escherichia coli thioredoxin gene fusion expression system and recognition by neutralizing antibodies. Biochemistry. 34:1787-1797.
39. Ruegg, N., et al. 1995. Mutagenesis of immunoglobulin-like domains from the extracellular human interferon-gamma receptor alpha chain and their recognition by neutralizing antibodies monitored by surface plasmon resonance technology. J. Immunol. Methods. 183:95-101.
40. Bridges, A., et al. 1996. Variable region cDNA sequences and characterization of murine anti-human interferon γ receptor monoclonal antibodies that inhibit receptor binding by interferon γ. Mol. Immunol. 32:1329-1338.
41. Sogabe, S., et al. 1997. Neutralizing epitopes on the extracellular interferon gamma receptor (IFNgammaR) alpha-chain characterized by homolog scanning mutagenesis and x-ray crystal structure of the A6 fab-IFNgammaR1-108 complex. J. Mol. Biol. 273:882-897.
42. Hofstadter, K., Stuart, F., Jiang, L., Vrijbloed, J.W., and Robinson, J.A. 1999. On the importance of being aromatic at an antibody-protein antigen interface: mutagenesis of the extracellular interferon gamma receptor and recognition by the neutralizing antibody A6. J. Mol. Biol. 285:805-815.
43. Fleisher, TA, et al. 1999. Detection of intracellular phosphorylated STAT-1 by flow cytometry. Clin. Immunol. 90:425-430.