Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts

Annals of the Rheumatic Diseases

Volumn 72, Issue 6, 2013, Pages 1064-1070

  Balow Jr , James E ^a   Ryan, John G ^a   Chae, Jae Jin ^a   Booty, Matthew G ^a   Bulua, Ariel ^b   Stone, Deborah ^a   Sun, Hong Wei ^b   Greene, James ^c   Barham, Beverly ^a   Goldbach Mansky, Raphaela ^b   Kastner, Daniel L ^a   Aksentijevich, Ivona ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^c CATHOLIC UNIVERSITY OF AMERICA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 1; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

ADAPTIVE IMMUNITY; ADULT; ARTICLE; CELL ADHESION; CELL DEATH; CELL MOTILITY; CINCA SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG EFFECT; DRUG RESPONSE; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNOREGULATION; INNATE IMMUNITY; INTERLEUKIN 1 GENE; MALE; MICROARRAY ANALYSIS; OXIDATIVE STRESS; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REMISSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; T LYMPHOCYTE ACTIVATION; TRANSCRIPTION REGULATION;

CYTOKINES; FEVER SYNDROMES; INFLAMMATION;

ADULT; ANTIRHEUMATIC AGENTS; CASE-CONTROL STUDIES; CHILD; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; GENE EXPRESSION PROFILING; HUMANS; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; MICROARRAY ANALYSIS; MODELS, GENETIC; SEVERITY OF ILLNESS INDEX; TRANSCRIPTOME;

EID: 84877598469     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2012-202082     Document Type: Article

References (32)

1. Aksentijevich I, Kastner DL. Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol 2011;7:469-78.
2. Martinon F, Burns K, Tschopp J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell 2002;10:417-26. (Pubitemid 35007355)
3. Agostini L, Martinon F, Burns K, et al. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004;20:319-25. (Pubitemid 38388233)
4. Tschopp J, Schroder K. NLRP3 inflammasome activation: the convergence of multiple signalling pathways on ROS production? Nat Rev Immunol 2010;10:210-15.
5. Lu B, Nakamura T, Inouye K, et al. Novel role of PKR in inflammasome activation and HMGB1 release. Nature 2012;488:670-4.
6. Aksentijevich I, Nowak M, Mallah M, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 2002;46:3340-8. (Pubitemid 35453546)
7. Janssen R, Verhard E, Lankester A, et al. Enhanced interleukin-1beta and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum 2004;50:3329-33. (Pubitemid 39372011)
8. Gattorno M, Tassi S, Carta S, et al. Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum 2007;56:3138-48. (Pubitemid 47502762)
9. Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med 2003;348:2583-4.
10. Goldbach-Mansky R, Dailey NJ, Canna SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 2006;355:581-92. (Pubitemid 44200651)
11. Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, et al. Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med 2009;360:2416-25.
12. Goldbach-Mansky R . Current status of understanding the pathogenesis and management of patients with NOMID/CINCA. Curr Rheumatol Rep 2011;13:123-31.
13. Dinarello CA. Blocking IL-1 in systemic inflammation. J Exp Med 2005;201:1355-9. (Pubitemid 40664079)
14. Pascual V, Allantaz F, Arce E, et al. Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med 2005;201:1479-86. (Pubitemid 40664091)
15. Trompouki E, Hatzivassiliou E, Tsichritzis T, et al. CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members. Nature 2003;424:793-6. (Pubitemid 37021710)
16. Hurgin V, Novick D, Werman A, et al. Antiviral and immunoregulatory activities of IFN-gamma depend on constitutively expressed IL-1alpha. Proc Natl Acad Sci U S A 2007;104:5044-9. (Pubitemid 47186173)
17. Ikeda F, Nishimura R, Matsubara T, et al. Critical roles of c-Jun signaling in regulation of NFAT family and RANKL-regulated osteoclast differentiation. J Clin Invest 2004;114:475-84. (Pubitemid 39572097)
18. Vukicevic S, Grgurevic L. BMP-6 and mesenchymal stem cell differentiation. Cytokine Growth Factor Rev 2009;20:441-8.
19. Cruz CM, Rinna A, Forman HJ, et al. ATP activates a reactive oxygen species-dependent oxidative stress response and secretion of proinflammatory cytokines in macrophages. J Biol Chem 2007;282:2871-9. (Pubitemid 47084344)
20. Dostert C, Petrilli V, Van Bruggen R, et al. Innate immune activation through Nalp3 inflammasome sensing of asbestos and silica. Science 2008;320:674-7. (Pubitemid 351928351)
21. Zhou R, Yazdi AS, Menu P, et al. A role for mitochondria in NLRP3 inflammasome activation. Nature 2010;469:221-5.
22. Tassi S, Carta S, Delfino L, et al. Altered redox state of monocytes from cryopyrin-associated periodic syndromes causes accelerated IL-1beta secretion. Proc Natl Acad Sci U S A 2010;107:9789-94.
23. Bauernfeind F, Bartok E, Rieger A, et al. Cutting edge: reactive oxygen species inhibitors block priming, but not activation, of the NLRP3 inflammasome. J Immunol 2011;187:613-17.
24. Zhou R, Tardivel A, Thorens B, et al. Thioredoxin-interacting protein links oxidative stress to inflammasome activation. Nat Immunol 2010;11:136-40.
25. Bulua AC, Simon A, Maddipati R, et al. Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). J Experiment Med 2011;208:519-33.
26. Tanji K, Mori F, Imaizumi T, et al. Upregulation of alpha-synuclein by lipopolysaccharide and interleukin-1 in human macrophages. Pathol Int 2002;52:572-7. (Pubitemid 35335039)
27. Appel SH. CD4+ T cells mediate cytotoxicity in neurodegenerative diseases. J Clin Invest 2009;119:13-15.
28. Bonizzi G, Piette J, Merville MP, et al. Cell type-specific role for reactive oxygen species in nuclear factor-kappaB activation by interleukin-1. Biochem Pharmacol 2000;59:7-11.
29. Bauernfeind FG, Horvath G, Stutz A, et al. Cutting edge: NF-kappaB activating pattern recognition and cytokine receptors license NLRP3 inflammasome activation by regulating NLRP3 expression. J Immunol 2009;183:787-91.
30. Allantaz F, Chaussabel D, Stichweh D, et al. Blood leukocyte microarrays to diagnose systemic onset juvenile idiopathic arthritis and follow the response to IL-1 blockade. J Exp Med 2007;204:2131-44. (Pubitemid 47360874)
31. Ogilvie EM, Khan A, Hubank M, et al. Specific gene expression profiles in systemic juvenile idiopathic arthritis. Arthritis Rheum 2007;56:1954-65. (Pubitemid 47110394)
32. Quartier P, Allantaz F, Cimaz R, et al. A multicentre, randomised, double-blind, placebo-controlled trial with the interleukin-1 receptor antagonist anakinra in patients with systemic-onset juvenile idiopathic arthritis (ANAJIS trial). Ann Rheum Dis 2011;70:747-54.