Normal expression of IFN-γR in four patients with uncommon mycobacterial infection phenotypes

Brazilian Journal of Medical and Biological Research

Volumn 37, Issue 9, 2004, Pages 1353-1363

  Rugeles, M T ^a   Rincon B ^a   Rugeles, C ^a   Montoya, C J ^a   Hernandez M ^a   Estrada, C ^a   Olivares, M M ^a   Patino P J ^a  

^a UNIVERSIDAD DE ANTIOQUIA   (Colombia)

Author keywords

IFN ; IFN receptor; Mycobacterial disease; SSCP PCR; STAT 1

Indexed keywords

BCG VACCINE; COMPLEMENTARY DNA; COTRIMOXAZOLE; ETHAMBUTOL; ETHIONAMIDE; GAMMA INTERFERON; GAMMA INTERFERON RECEPTOR; GAMMA INTERFERON RECEPTOR 1; GAMMA INTERFERON RECEPTOR 2; INTERLEUKIN 12; ISONIAZID; STAT1 PROTEIN; TUBERCULOSTATIC AGENT; UNCLASSIFIED DRUG;

ARTICLE; B LYMPHOCYTE; BCG VACCINATION; CASE REPORT; CELL TRANSFORMATION; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EPSTEIN BARR VIRUS; FEMALE; FLOW CYTOMETRY; GENETIC ANALYSIS; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; MILIARY TUBERCULOSIS; MONONUCLEAR CELL; MUTATIONAL ANALYSIS; MYCOBACTERIOSIS; MYCOBACTERIUM TUBERCULOSIS; PHAGOCYTE; PHENOTYPIC VARIATION; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; PROTEIN PROTEIN INTERACTION; RECURRENT INFECTION; SIGNAL TRANSDUCTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SPECIES DIFFERENCE; TUBERCULOSIS; WESTERN BLOTTING;

ACTINOBACTERIA (CLASS); CORYNEBACTERINEAE; HUMAN HERPESVIRUS 4; MYCOBACTERIUM; MYCOBACTERIUM BOVIS BCG; MYCOBACTERIUM TUBERCULOSIS; UNCULTURED ACTINOMYCETE;

EID: 4444289044     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2004000900010     Document Type: Article

References (40)

1. Stark GR, Kerr I, Williams MB, Silverman GR & Schreiber RD (1998). How cells respond to interferons. Annual Review of Biochemistry, 67: 227-264.
2. Okamura H, Kashiwamura S, Tsutsui H, Yoshimoto T & Nakanishi K (1998). Regulation of interferon-γ production by IL-12 and IL-18. Current Opinion in Immunology, 10: 259-264.
3. Kennedy MK, Picha KS, Shanebeck KD, Anderson DM & Grabstein KH (1994). Interleukin-12 regulates the proliferation in Th1, but not Th2 or Th0, clones. European Journal of Immunology, 24: 2271-2278.
4. Fruh K & Yang Y (1999). Antigen presentation by MHC class I and its regulation by interferon. Current Opinion in Immunology, 11: 76-81.
5. Boehm U, Klamp T, Groot M & Howard JC (1997). Cellular responses to interferon-γ. Annual Review of Immunology, 15: 749-795.
6. Bach EA, Aguet M & Schreiber RD (1997). The IFN-γ receptor: a paradigm for cytokine receptor signaling. Annual Review of Immunology, 15: 563-591.
7. Axelrod A, Gibbs VC & Goeddel DV (1994). The interferon-γ receptor extracellular domain. Non-identical requirements for ligand binding and signaling. Journal of Biological Chemistry, 269: 15533-15539.
8. Kotenko SV, Izotova LS, Pollack BP et al. (1995). Interaction between the components of the interferon gamma receptor complex. Journal of Biological Chemistry, 270: 20915-20921.
9. Rhee S, Ebensperger C, Dembic Z & Pestka S (1996). The structure of the gene for the second chain of the human interferon-γ receptor. Journal of Biological Chemistry, 271: 28947-28952.
10. Farrar MA, Fernandez-Luna J & Schreiber RD (1991). Identification of two regions within the cytoplasmic domain of the human interferon-γ receptor required for function. Journal of Biological Chemistry, 266: 19626-19635.
11. Hu R, Bekisz J, Hayes M, Audet S, Beeler J, Petricoin E & Zoon K (1999). Divergence of binding, signaling, and biological responses to recombinant human hybrid IFN. Journal of Immunology, 163: 854-860.
12. Marsters SA, Pennica D, Bach E, Schreiber RD & Ashkenazi A (1995). Interferon γ signals via a high-affinity multisubunit receptor complex that contains two types of polypeptide chain. Proceedings of the National Academy of Sciences, USA, 92: 5401-5405.
13. Behrmann I, Janzen C, Gerhartz C, Schmitz-Van de Leur H, Hermanns H, Heesel B, Graeve L, Horn F, Tavernier J & Heinrich PC (1997). A single STAT recruitment module in a chimeric cytokine receptor complex is sufficient for STAT activation. Journal of Biological Chemistry, 272: 5269-5274.
14. Begitt A, Meyer T, van Rossum M & Vinkemeier U (2000). Nucleocytoplasmic translocation of Stat1 is regulated by a leucine-rich export signal on the coiled-coil domain. Proceedings of the National Academy of Sciences, USA, 97: 10418-10423.
15. Chatterjee-Kishore M, Wright KL, Ting JP & Stark GR (2000). How STAT1 mediates constitutive gene expression: a complex of unphosphorylated STAT1 and IRF1 supports transcription of the LMP2 gene. EMBO Journal, 19: 4111-4122.
16. Igarashi K, Garotta G, Ozmen L, Ziemiecki A, Wilks AF, Harpur AG, Larner AC & Finbloom DS (1994). Interferon-γ induces tyrosine phosphorylation of interferon-γ receptor and regulated association of protein tyrosine kinases, Jak1 and Jak2, with its receptor. Journal of Biological Chemistry 269: 14333-14336.
17. Kovarik P, Stoiber D, Novy M & Decker T (1998). Stat1 combines signals derived from IFN-γ and LPS receptors during macrophage activation. EMBO Journal, 17: 3660-3668.
18. Mowen K & David M (2000). Regulation of STAT1 nuclear export by JAK1. Molecular and Cellular Biology, 20: 7273-7281.
19. Szente BE, Subramaniam PS & Johnson HM (1995). Identification of IFN-γ receptor binding sites for JAK2 and enhancement of binding by IFN-γ and its C-terminal peptice IFN-γ(95-133). Journal of Immunology, 155: 5617-5622.
20. Bellamy R & Hill AV (1998). Genetic susceptibility to mycobacteria and other infectious pathogens in humans. Current Opinions in Immunology, 10: 483-487.
21. Fenton M & Vermeulen M (1996). Immunopathology of tuberculosis: Roles of macrophages and monocytes. Infection and Immunity, 64: 683-690.
22. Casanova JL & Abel L (2002). Genetic dissection of immunity to mycobacteria: the human model. Annual Review of Immunology, 20: 581-620.
23. Fieschi C & Casanova JL (2003). The role of interleukin-12 in human infectious diseases: only a faint signature. European Journal of Immunology, 33: 1461-1464.
24. Casanova JL, Newport M, Fisher A & Levin M (1999). Inherited interferon gamma receptor deficiency. In: Ochs HD, Smith CIE & Puck JM (Editors), Primary Immunodeficiency Diseases: A molecular and Genetic Approach. Oxford University Press, Oxford, UK, 209.
25. Dorman S & Holland S (2000). Interferon-γ and interleukin-12 pathway defects and human disease. Cytokine and Growth Factor Reviews, 11: 321-333.
26. Holland SM, Dorman SE, Kwon A, Pitha-Rowe IF, Frucht DM, Gerstberger SM, Noel GJ, Vesterhus P, Brown MR & Fleisher TA (1998). Abnormal regulation of interferon-γ, interleukin-12, and tumor necrosis factor-α in human interferon-γ receptor 1 deficiency. Journal of Infectious Diseases, 178: 1095-1104.
27. Dupuis S, Dargemont C, Fieschi C, Thomassin N, Rosenzweig S, Harris J, Holland SM, Schreiber RD & Casanova JL (2001) Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation. Science, 293: 300-303.
28. Fan E, Levin DB, Glickman BW & Logan DM (1993). Limitations in the use of SSC analysis. Mutation Research, 288: 85-92.
29. Bellamy R, Beyers N, McAdam KP et al. (1999). Genetic susceptibility to tuberculosis in Africans: a genome-wide scan. Proceedings of the National Academy of Sciences, USA, 97: 8005-8009.
30. Altare F, Durandy A, Lammas D et al. (1998). Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science, 280: 1432-1435.
31. Jouanguy E, Lamhamedi-Cherradi S, Lammas D et al. (1999). A human IFN-GR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. Nature Genetics, 21: 370-378.
32. Jouanguy E, Lamhamedi-Cherradi S, Altare F et al. (1997). Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guerin infection and a sibling with clinical tuberculosis. Journal of Clinical Investigation, 100: 2658-2664.
33. Picard C, Fieschi C, Altare F et al. (2002). Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. American Journal of Human Genetics, 70: 336-348.
34. Fieschi C, Dupuis S, Catherinot E et al. (2003). Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. Journal of Experimental Medicine, 197: 527-535.
35. Pernis A, Gupta S, Gollob KJ, Garfein E, Coffman RL, Schindler C & Rothman P (1995). Lack of interferon-γ receptor β chain and the prevention of interferon-γ signaling in TH1 cells. Science, 269: 245-247.
36. Pierre-Audigier C, Jouanguy E, Lamhamedi S et al. (1997). Fatal disseminated Mycobacterium smegmatis infection in a child with inherited interferon-γ receptor deficiency. Clinical Infectious Diseases, 24: 982-984.
37. Gately MK, Renzetti LM, Magram J, Stern AS, Adorini L, Gubler U & Presky DH (1998). The interleukin-12/interleukin-12 receptor system: role in normal and pathologic immune responses. Annual Review of Immunology, 17: 495-521.
38. Zhang F, Nakamura T & Aune TM (1999). TCR and IL-12 receptor signals cooperate to activate an individual response element in the IFN-γ promoter in effector Th cell. Journal of Immunology, 163: 728-735.
39. Piccotti JR, Chan SY, Li K, Eichwald EJ & Bishop DK (1997). Differential effects of IL-12 receptor blockade with IL-12 p40 homodimer on the induction of CD4+ and CD8+ IFN-γ producing cells. Journal of Immunology, 158: 643-648.
40. Dupuis S, Jouanguy E, Al-Hajjar S et al. (2003). Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nature Genetics, 33: 388-391. s