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Research Article

CARD15 frameshift mutation in patients with Crohn disease is associated with immune dysregulation

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Pages 1243-1249 | Published online: 08 Jul 2009

References

  • Ogura Y, Bonen DK, Inohara N, Nicolae N, Chen FF, Ramos R, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature 2001;411:603–6.
  • Inohara N, Ogura Y, Fontalba A, Gutierrez O, Pons F, Crespo J, et al. Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn’s disease. J Biol Chem 2003;278:5509–12.
  • Schreiber S, Nikolaus S, Hampe J. Activation of nuclear kappa B inflammatory bowel disease. Gut 1998;42:477–84.
  • Hart PH, Whitty GA, Piccoli DS, Hamilton JA. Synergistic activation of human monocytes by granulocyte-macrophage colony-stimulating factor and IFN-gamma. Increased TNF-alpha but not IL-1 activity. J Immunol 1988;141:1516–21.
  • Hayes MP, Freeman SL, Donnelly RP. IFN-gamma priming of monocytes enhances LPS-induced TNF production by augmenting both transcription and MRNA stability. Cytokine 1995; 7: 427–35.
  • Hermann P, Rubio M, Nakajima T, Delespesse G, Sarfati M. IFN-α priming of human monocytes differentially regulates gram-positive and gram-negative bacteria-induced IL-10 release and selectively enhances IL-12p70, CD80, and MHC class I expession. J Immunol 1998;161: 2011–8.
  • Perkins RC, Vadhan-Raj S, Scheule RK, Hamilton R, Holian A. Effects of continuous high dose rhGM-CSF infusion on human monocyte activity. Am J Hematol 1993;43:279–85.
  • Hennemann B, Kreutz M, Rehm A, Andreesen R. Effect of granulocyte-macrophage colony-stimulating factor treatment on phenotype, cytokine release and cytotoxicity of circulating blood monocytes and monocyte-derived macrophages. Br J Haematol 1998;102:1197–203.
  • Cheng SM, Yang SP, Ho LJ, Tsao TP, Chang DM, Lai JH. Carvedilol modulates in-vitro granulocyte-macrophage colony- stimulating factor-induced interleukin-10 production in U937 cells and human monocytes. Immunol Invest 2003;32:43–58.
  • de Waal Malefyt R, Abrams J, Bennett B, Figdor CG, De Vries JE. Interleukin 10 (IL-10) inhibits cytokine synthesis by human monocytes: an autoregulatory role of IL-10 produced by monocytes. J Exp Med 1991;174:1209–20.
  • Koppelman B, Neefjes JJ, de Vries JE, de Waal Malefyt R. Interleukin-10 down-regulates MHC class II alphabeta peptide complexes at the plasma membrane of monocytes by affecting arrival and recycling. Immunity 1997;7:861–71.
  • Fumeaux T, Pugin J. Role of interleukin-10 in the intracellular sequestration of human leukocyte antigen-DR in monocytes during septic shock. Am J Respir Crit Care Med 2002;166:1475–82.
  • Wolk K, Docke WD, von Baehr V, Volk HD, Sabat R. Impaired antigen presentation by human monocytes during endotoxin tolerance. Blood 2000;96:218–23.
  • Döcke WD, Randow F, Syrbe U, Krausch D, Asadullah K, Reinke P, et al. Monocyte deactivation in septic patients: restoration by IFN-gamma treatment. Nat Med 1997;3:678–81.
  • Randow F, Docke WD, Bundschuh DS, Hartung T, Wendel A, Volk HD. In vitro prevention and reversal of lipopolysaccharide desensitization by IFN-gamma, IL-12, and granulocyte-macrophage colony-stimulating factor. J Immunol 1997;158:2911–8.
  • Heliö T, Halme L, Lappalainen M, Fodstad H, Paavola-Sakki P, Turunen U, et al. CARD15/NOD2 gene variants are associated with familially occurring and complicated forms of Crohn’s disease. Gut 2003;52: 558–62.
  • Takala A, Housela I, Olkkola KT, Jansson SE, Leirisalo-Repo M, Takkunen O, et al. Systemic inflammatory response syndrome without systemic inflammation in acutely ill patients admitted to hospital in a medical emergency. Clin Sci 1999;96:287–95.
  • Kylanpaa-Back ML, Takala A, Kemppainen E, Puolakkainen P, Kautiainen H, Jansson SE, et al. Cellular markers of systemic inflammation and immune suppression in patients with organ failure due to severe acute pancreatitis. Scand J Gastroenterol 2001;36:1100–7.
  • Frankenberger M, Sternsdorf T, Pechumer H, Pforte A, Ziegler- Heitbrock HW. Differential cytokine expression in human blood monocyte subpopulations: a polymerase chain reaction analysis. Blood 1996;87:373–7.
  • Fingerle G, Pforte A, Passlick B, Blumenstein M, Strobel M, Ziegler-Heitbrock HW. The novel subset of CD14+/CD16+ blood monocytes is expanded in sepsis patients. Blood 1993;82: 3170–6.
  • Szucs G, Kavai M, Suranyi P, Kiss E, Csipo I, Szegedi G. Correlations of monocyte phagocytic receptor expressions with serum immune complex level in systemic lupus erythematosus. Scand J Immunol 1994;40:481–4.
  • Ancuta P, Weiss L, Haeffner-Cavaillon N. CD14+CD16++ cells derived in vitro from peripheral blood monocytes exhibit phenotypic and functional dendritic cell-like characteristics. Eur J Immunol 2000;30: 1872–83.
  • Repo H, Jansson SE, Leirisalo-Repo M. Flow cytometric determination of CD11b upregulation in vivo. J Immunol Methods 1993;164: 193–202.
  • Huhtinen M, Repo H, Laasila K, Jansson SE, Kautiainen H, Karma A, et al. Systemic inflammation and innate immune response in patients with previous anterior uveitis. Br J Ophthalmol 2002;86:412–7.
  • Gigardin SE, Boneca IG, Viala J, Chamaillard M, Labigne A, Thomas G, et al. NOD2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection. J Biol Chem 2003; 278:8869–72.
  • Lala S, Ogura Y, Osborne C, Hor SY, Blomfield A, Davies S, et al. Crohn’s disease and the NOD2 gene: a role for Paneth cells. Gastroenterology 2003;125:47–57.
  • Netea MG, van der Meer JW, van Deuren M, Kullberg BJ. Proinflammatory cytokines and sepsis syndrome: not enough, or too much of a good thing? Trends Immunol 2003;24:254–8.
  • Hisamatsu T, Suzuki M, Reindecker H-C, Nadeau WJ, McCormick BA, Podolsky DK. CARD15/NOD2 functions as an antibacterial factor in human intestinal epithelial cells. Gastroenterology 2003;124: 993–1000.
  • Rosenstiel P, Fantini M, Brautigam K, Kuhbacher T, Waetzig GH, Seegert D, et al. TNF-alpha and IFN-gamma regulate the expression of the NOD2 (CARD15) gene in human intestinal epithelial cells. Gastroenterology 2003;124:1001–9.
  • Giallourakis C, Stoll M, Miller K, Hampe J, Lander E, Daly M, et al. IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and identification of a novel association with ulcerative colitis. Am J Hum Genet 2003;73:205–11.
  • Rahman P, Bartlett S, Siannis F, Pellet FL, Farewell VT, Peddle L, et al. CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis. Am J Hum Gen 2003; 73: 677–8.

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