Alterations in nucleotide-binding oligomerization domain-2 expression, pathway activation, and cytokine production in Yao syndrome

References

• Feerick CL, McKernan DP. Understanding the regulation of pattern recognition receptors in inflammatory diseases - a ‘Nod’ in the right direction. Immunology. 2017;150:237–247.
   PubMed Web of Science ®Google Scholar
• Caruso R, Warner N, Inohara N, Nunez G. NOD1 and NOD2: signaling, host defense, and inflammatory disease. Immunity. 2014;41:898–908.
   PubMed Web of Science ®Google Scholar
• Wouters CH, Maes A, Foley K, Bertin PJ, Rose CD. Blau syndrome, the prototypic auto-inflammatory granulomatous disease. Pediatr Rheumatol Online J. 2014;12:33.
   PubMed Web of Science ®Google Scholar
• Yao Q, Shen B. A systematic analysis of treatment and outcomes of NOD2-associated autoinflammatory disease. Am J Med. 2017;130:365.e313–365.e318.
   Web of Science ®Google Scholar
• Yao Q, Zhou L, Cusumano P, et al. A new category of autoinflammatory disease associated with NOD2 gene mutations. Arthritis Res Ther. 2011;13:R148.
   PubMed Web of Science ®Google Scholar
• Yao Q, Shen M, McDonald C, et al. NOD2-associated autoinflammatory disease: a large cohort study. Rheumatology. 2015;54:1904–1912.
   PubMed Web of Science ®Google Scholar
• Sugimura K, Taylor KD, Lin YC, et al. A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. Am J Hum Genet. 2003;72:509–518.
   PubMed Web of Science ®Google Scholar
• Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411:599–603.
   PubMed Web of Science ®Google Scholar
• Chamaillard M, Philpott D, Girardin SE, et al. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci USA. 2003;100:3455–3460.
   PubMed Web of Science ®Google Scholar
• Yao Q, Su LC, Tomecki KJ, et al. Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. J Am Acad Dermatol. 2013;68:624–631.
   PubMed Web of Science ®Google Scholar
• Caso F, Galozzi P, Costa L, et al. Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. RMD Open. 2015;1:e000097.
   PubMed Web of Science ®Google Scholar
• Estephan M, Yao Q, Springer J. Case of NOD2-associated autoinflammatory disease successfully treated with sulfasalazine. J Clin Rheumatol. 2017;23:58–59.
   PubMed Web of Science ®Google Scholar
• Dziedzic M, Marjanska A, Babol-Pokora K, et al. Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report. Pediatr Rheumatol. 2017;15:57.
   PubMed Web of Science ®Google Scholar
• Yao Q, Lacbawan F, Li J. Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. Semin Arthritis Rheum. 2016;45:633–637.
   PubMed Web of Science ®Google Scholar
• Yao Q, Schils J. Distal lower extremity swelling as a prominent phenotype of NOD2-associated autoinflammatory disease. Rheumatology. 2013;52:2095–2097.
   PubMed Web of Science ®Google Scholar
• Homer CR, Richmond AL, Rebert NA, et al. ATG16L1 and NOD2 interact in an autophagy-dependent antibacterial pathway implicated in Crohn’s disease pathogenesis. Gastroenterology. 2010;139:1630–1641. 1641.e1–2.
   PubMed Web of Science ®Google Scholar
• Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-delta delta C(T)) method. Methods. 2001;25:402–408.
   PubMed Web of Science ®Google Scholar
• ter Haar NM, Oswald M, Jeyaratnam J, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015;74:1636–1644.
   PubMed Web of Science ®Google Scholar
• Sozzani S, Abbracchio MP, Annese V, et al. Chronic inflammatory diseases: do immunological patterns drive the choice of biotechnology drugs? A critical review. Autoimmunity. 2014;47:287–306.
   PubMed Web of Science ®Google Scholar
• 1000 Genomes Consortium, Auton A, Brooks LD, et al. A global reference for human genetic variation. Nature 2015;526:68–74.
   PubMed Web of Science ®Google Scholar
• Pagani F, Baralle FE. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet. 2004;5:389–396.
   PubMed Web of Science ®Google Scholar
• Nowlan ML, Drewe E, Bulsara H, et al. Systemic cytokine levels and the effects of etanercept in TNF receptor-associated periodic syndrome (TRAPS) involving a C33Y mutation in TNFRSF1A. Rheumatology. 2006;45:31–37.
   PubMed Web of Science ®Google Scholar
• Lachmann HJ, Lowe P, Felix SD, et al. In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes. J Exp Med. 2009;206:1029–1036.
   PubMed Web of Science ®Google Scholar
• Wu T, Sajitharan D, Mohan C. Biomarkers of rheumatoid arthritis: recent progress. Exp Opin Med Diagn. 2010;4:293–305.
   PubMedGoogle Scholar
• Goldbach-Mansky R, Kastner DL. Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. J Allergy Clin Immunol. 2009;124:1141–1149, quiz 1150–1.
   PubMed Web of Science ®Google Scholar
• Shen M, Moran R, Tomecki KJ, Yao Q. Granulomatous disease associated with NOD2 sequence variants and familial camptodactyly: an intermediate form of NOD2-associated diseases? Semin Arthritis Rheum. 2015;45:357–360.
   PubMed Web of Science ®Google Scholar
• Abraham C, Cho JH. Functional consequences of NOD2 (CARD15) mutations. Inflamm Bowel Dis. 2006;12:641–650.
   PubMed Web of Science ®Google Scholar
• Bonen DK, Ogura Y, Nicolae DL, et al. Crohn’s disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. Gastroenterology. 2003;124:140–146.
   PubMed Web of Science ®Google Scholar
• van Heel DA, Ghosh S, Butler M, et al. Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn’s disease. Lancet. 2005;365:1794–1796.
   PubMed Web of Science ®Google Scholar
• Takahashi Y, Isuzugawa K, Murase Y, et al. Up-regulation of NOD1 and NOD2 through TLR4 and TNF-alpha in LPS-treated murine macrophages. J Vet Med Sci. 2006;68:471–478.
   PubMed Web of Science ®Google Scholar
• Cho JH, Abraham C. Inflammatory bowel disease genetics: Nod2. Annu Rev Med. 2007;58:401–416.
   PubMed Web of Science ®Google Scholar
• Kim YG, Shaw MH, Warner N, et al. Cutting edge: Crohn’s disease-associated Nod2 mutation limits production of proinflammatory cytokines to protect the host from Enterococcus faecalis-induced lethality. J Immunol. 2011;187:2849–2852.
   PubMed Web of Science ®Google Scholar
• de Souza HS, Fiocchi C. Immunopathogenesis of IBD: current state of the art. Nat Rev Gastroenterol Hepatol. 2016;13:13–27.
   PubMed Web of Science ®Google Scholar
• Melgar S, Shanahan F. Inflammatory bowel disease—from mechanisms to treatment strategies. Autoimmunity. 2010;43:463–477.
   PubMed Web of Science ®Google Scholar
• Karczewski J, Swora-Cwynar E, Rzymski P, et al. Selected biologic markers of inflammation and activity of Crohn's disease. Autoimmunity. 2015;48:318–327.
   PubMed Web of Science ®Google Scholar
• Hedl M, Li J, Cho JH, Abraham C. Chronic stimulation of Nod2 mediates tolerance to bacterial products. Proc Natl Acad Sci USA. 2007;104:19440–19445.
   PubMed Web of Science ®Google Scholar
• Hiemstra IH, Bouma G, Geerts D, et al. Nod2 improves barrier function of intestinal epithelial cells via enhancement of TLR responses. Mol Immunol. 2012;52:264–272.
   PubMed Web of Science ®Google Scholar
• Moreira LO, El Kasmi KC, Smith AM, et al. The TLR2-MyD88-NOD2-RIPK2 signalling axis regulates a balanced pro-inflammatory and IL-10-mediated anti-inflammatory cytokine response to Gram-positive cell walls. Cell Microbiol. 2008;10:2067–2077.
   PubMed Web of Science ®Google Scholar
• Park JH, Kim YG, McDonald C, et al. RICK/RIP2 mediates innate immune responses induced through Nod1 and Nod2 but not TLRs. J Immunol. 2007;178:2380–2386.
   PubMed Web of Science ®Google Scholar