Interferon-γ-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

New England Journal of Medicine

Volumn 335, Issue 26, 1996, Pages 1956-1961

  Jouanguy, Emmanuelle ^a   Altare, Frédéric ^a   Lamhamedi, Salma ^a   Revy, Patrick ^a   Emile, Jean François ^a   Newport, Melanie ^b   Levin, Michael ^b   Blanche, Stéphane ^a   Seboun, Eric ^c   Fischer, Alain ^a   Casanova, Jean Laurent ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b ST MARY S HOSPITAL   (United Kingdom)

^c GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BCG VACCINE;

ARTICLE; BCG VACCINATION; CASE REPORT; DEATH; FEMALE; GENE FUNCTION; GRANULOMATOUS INFLAMMATION; HUMAN; IMMUNE DEFICIENCY; INFANT; LYMPH NODE BIOPSY; MYCOBACTERIOSIS; PATHOGENESIS; PRIORITY JOURNAL; PROGNOSIS;

ANTIGENS, CD; BASE SEQUENCE; BCG VACCINE; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; MYCOBACTERIUM BOVIS; PEDIGREE; RECEPTORS, INTERFERON; TUBERCULOSIS;

EID: 0030455878     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/nejm199612263352604     Document Type: Article

References (38)

1. Lotte A, Wasz-Höckert O, Poisson N, Dumitrescu N, Verron M, Couvet E. BCG complications: estimates of the risks among vaccinated subjects and statistical analysis of their characteristics. Adv Tuberc Res 1984;21: 107-93.
2. Casanova J-L, Jouanguy E, Lamhamedi S, Blanche S, Fischer A. Immunological conditions of children with BCG disseminated infection. Lancet 1995;346:581.
3. Primary immunodeficiency diseases: report of a WHO scientific group. Clin Exp immunol 1995;99:Suppl 1:1-24.
4. Casanova J-L, Blanche S, Emile J-F, et al. Idiopathie disseminated bacillus Calmette-Guérin (BCG) infection: a French national retrospective study. Pediatrics 1996;98:774-8.
5. Emile J-F, Patey N, Altare F, et al. Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated bacillus Calmette-Guérin (BCG) infection. J Pathol (in press).
6. Kamijo R, Le J, Shapiro D, et al. Mice that lack the interferon-γ receptor have profoundly altered responses to infection with bacillus CalmetteGuérin and subsequent challenge with lipopolysaccharide. J Exp Med 1993;178:1435-40.
7. Dalton DK, Pitts-Meek S, Keshav S, Figari IS, Bradley A, Stewart TA. Multiple defects of immune cell function in mice with disrupted interferon-γ genes. Science 1993;259:1739-42.
8. Kamijo R, Harada H, Matsuyama T, et al. Requirement for transcription factor IRF-1 in NO synthase induction in macrophages. Science 1994; 263:1612-5.
9. Kindler V, Sappino AP, Grau GE, Piguet PF, Vassalli P. The inducing role of tumor necrosis factor in the development of bactericidal granulomas during BCG infection. Cell 1989;56:731-40.
10. Flynn JL, Goldstein MM, Chan J, et al. Tumor necrosis factor-α is required in the protective immune response against Mycobacterium tuberculosis in mice. Immunity 1995;2:561-72.
11. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory, 1989.
12. Aguet M, Dembić Z, Merlin G. Molecular cloning and expression of the human interferon-γ receptor. Cell 1988;55:273-80.
13. Casanova JL, Pannetier C, Jaulin C, Kourilsky P. Optimal conditions for directly sequencing double-stranded PCR products with sequenase. Nucleic Acids Res 1990;18:4028.
14. Newport MJ, Huxley CM, Huston S, et al. A mutation in the interferon-γ-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 1996;335:1941-9.
15. Guleira I, Teitelbaum R, McAdam RA, Kalpana G, Jacobs WR Jr, Bloom BR. Auxotrophic vaccines for tuberculosis. Nat Med 1996;2:334-7.
16. Stead WW. Genetics and resistance to tuberculosis: could resistance be enhanced by genetic engineering? Ann Intern Med 1992;116:937-41.
17. Abel L, Demenais F. Detection of major genes for susceptibility to leprosy and its subtypes in a Caribbean island: Desirade island. Am J Hum Genet 1988;42:256-66.
18. Farrar MA, Schreiber RD. The molecular cell biology of interferon-γ and its receptor. Annu Rev Immunol 1993;11:571-611.
19. Magram J, Connaughton SE, Warrier RR, et al. IL-12-deficient mice are defective in IFNγ production and type I cytokine production. Immunity 1996;4:471-81.
20. Bach EA, Szabo SJ, Dighe AS, et al. Ligand-induced autoregulation of IFN-γ receptor β chain expression in T helper cell subsets. Science 1995; 270:1215-8.
21. Swihart K, Fruth U, Messmer N, et al. Mice from a genetically resistant background lacking the interferon y receptor are susceptible to infection with Leishmania major but mount a polarized T helper cell I-type CD4+ T cell response. J Exp Med 1995;181:961-71.
22. Douvas GS, Looker DL, Vatter AE, Crowlc AJ. Gamma interferon activates human macrophages to become tumoricidal and leishmanicidal but enhances replication of macrophage-associated mycobacteria. Infect Immun 1985;50:1-8.
23. Rook GAW, Steele J, Fraher L, et al. Vitamin D3, γ interferon, and control of proliferation of Mycobacterium tuberculosis by human monocytes. Immunology 1986;57:159-63.
24. Rook GAW, Steele I, Ainsworth M, Champion BR. Activation of macrophages to inhibit proliferation of Mycobacterium tuberculosis: comparison of the effects of recombinant γ-interferon on human monocytes and murine peritoneal macrophages. Immunology 1986;59:333-8.
25. Crowle AJ. Intracellular killing of mycobacteria. Res Microbiol 1990; 141:231-6.
26. Denis M. Killing of Mycobacterium tuberculosis within human monocytes: activation by cytokines and calcitriol. Clin Exp Immunol 1991;84: 200-6.
27. Denis M. Growth of Mycobacterium avium in human monocytes: identification of cytokines which reduce and enhance intracellular microbial growth. Eur J Immunol 1991;21:391-5.
28. Flesch IEA, Kaufmann SHE. Role of cytokines in tuberculosis. Immunobiology 1993;189:316-39.
29. Cooper AM, Dalton DK, Stewart TA, Griffin JP, Russell DG, Orme IM. Disseminated tuberculosis in interferon γ gene-disrupted mice. J Exp Med 1993;178:2243-7.
30. Flynn JL, Chan J, Triebold KJ, Dalton DK, Stewart TA, Bloom BR. An essential role for interferon γ in resistance to Mycobacterium tuberculosis infection. J Exp Med 1993;178:2249-54.
31. Huang S, Hendriks W, Althage A, et al. Immune response in mice that lack the interferon-gamma receptor. Science 1993;259:1742-5.
32. Zhao Y-X, Tarkowski A. Impact of interferon-γ receptor deficiency on experimental Staphylococcus aureus septicemia and arthritis. J Immunol 1995;155:5736-42.
33. Müller U, Steinhoff U, Reis LFL, et al. Functional role of type I and type II interferons in antiviral defense. Science 1994;264:1918-21.
34. Fiette L, Aubert C, Müller U. Theiler's virus infection of 129Sv mice that lack the interferon α/β or Interferon γ receptors. J Exp Med 1995; 181:2069-76.
35. Bouley DM, Kanangat S, Wire W, Rouse BT. Characterization of herpes simplex virus type-I infection and herpetic stromal keratitis development in IFN-gamma knockout mice. J Immunol 1995;155: 3964-71.
36. Tsuji M, Miyahira Y, Nussenzweig RS, Aguet M, Reichel M, Zavala F. Development of antimalarial immunity in mice lacking IFN-γ receptor. J Immunol 1995;154:5338-44.
37. Murray HW. Interferon-γ and host antimicrobial defense: current and future clinical applications. Am J Med 1994;97:459-67.
38. Bermudez LE, Kaplan G. Recombinant cytokines for controlling mycobacterial infections. Trends Microbiol 1995;3:22-7.