« Previous
Next »
Best Practice & Research Clinical Rheumatology
Volume 22, Issue 5
, Pages 811-829
, October 2008
Autoinflammatory diseases
References
- . The autoinflammatory syndromes. Current Opinion in Allergy and Clinical Immunology. 2002;2(6):511–516
- The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Current Opinion in Rheumatology. 2003;15(1):61–69
- . The systemic autoinflammatory diseases: inborn errors of the innate immune system. Current Topics in Microbiology and Immunology. 2006;305:127–160
- . DAMPs, PAMPs and alarmins: all we need to know about danger. Journal of Leukocyte Biology. 2007;81(1):1–5
- . TLRs, NLRs and RLRs: a trinity of pathogen sensors that co-operate in innate immunity. Trends in Immunology. 2006;27(8):352–357
- Distinct TLR- and NLR-mediated transcriptional responses to an intracellular pathogen. PLoS pathogens. 2008;4(1):e6
- . A common pathway in periodic fever syndromes. Trends in Immunology. 2004;25(9):457–460
- Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nature Genetics. 2001;29(3):301–305
- Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. American Journal of Human Genetics. 2002;71(1):198–203
- . The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Molecular Cell. 2002;10(2):417–426
- NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20(3):319–325
- . A candidate gene for familial Mediterranean fever. Nature Genetics. 1997;17(1):25–31
- . Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90(4):797–807
- The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proceedings of the National Academy of Sciences of the United States of America. 2006;103(26):9982–9987
- Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Biochemical and Biophysical Research Communications. 2003;302(3):575–580
- The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ. 2007;
- Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proceedings of the National Academy of Sciences of the United States of America. 2003;100(23):13501–13506
- Mutations in NALP12 cause hereditary periodic fever syndromes. Proceedings of the National Academy of Sciences of the United States of America. 2008;105(5):1614–1619
- Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nature Genetics. 1999;22(2):178–181
- Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nature Genetics. 1999;22(2):175–177
- . Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cellular and Molecular Life Sciences. 2003;60(6):1118–1134
- . A role for geranylgeranylation in interleukin-1beta secretion. Arthritis and Rheumatism. 2006;54(11):3690–3695
- Regulatory adaptation of isoprenoid biosynthesis and the LDL receptor pathway in fibroblasts from patients with mevalonate kinase deficiency. Pediatric Research. 1997;41(4 Pt 1):541–546
- Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133–144
- CARD15 mutations in Blau syndrome. Nature Genetics. 2001;29(1):19–20
- High-affinity interactions of tumor necrosis factor receptor-associated factors (TRAFs) and CD40 require TRAF trimerization and CD40 multimerization. Biochemistry. 1999;38(31):10168–10177
- Ectodomain shedding of TNF receptor 1 induced by protein synthesis inhibitors regulates TNF-alpha-mediated activation of NF-kappaB and caspase-8. Experimental Cell Research. 2008;314(6):1406–1414
- The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. American Journal of Human Genetics. 2001;69(2):301–314
- . Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes. American Journal of Physiology. Regulatory, Integrative and Comparative Physiology. 2007;292(1):R86–R98
- . The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Reviews in Molecular Medicine. 2005;7(22):1–18
- . Behcet's disease as an autoinflammatory disorder. Current Drug Targets. Inflammation and Allergy. 2005;4(1):81–83
- . Behcet's disease: an update on the pathogenesis. Clinical and Experimental Rheumatology. 2001;19(5 Suppl. 24):S6–S12
- . Familial Behcet's syndrome. Cutis. 1978;21(5):649–652
- Significant associations of HLA-B*5101 and B*5108, and lack of association of class II alleles with Behcet's disease in Italian patients. Tissue Antigens. 1999;54(6):565–571
- Triplet repeat polymorphism in the transmembrane region of the MICA gene: a strong association of six GCT repetitions with Behcet disease. Proceedings of the National Academy of Sciences of the United States of America. 1997;94(4):1298–1303
- Identification of an autosomal recessive mode of inheritance in paediatric Behcet's families by segregation analysis. American Journal of Medical Genetics. Part A. 2003;122(2):115–118
- . Targeting the interleukin-6 receptor: a new treatment for systemic juvenile idiopathic arthritis?. Arthritis and Rheumatism. 2005;52(3):687–693
- Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. The Journal of Experimental Medicine. 2005;201(9):1479–1486
- Amyloidosis and autoinflammatory syndromes. Current Drug Targets. Inflammation and Allergy. 2005;4(1):57–65
- The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis and Rheumatism. 2007;56(4):1273–1285
- . Ethnic distribution and amyloidosis in familial Mediterranean fever (FMF). Pathologia Et Microbiologia. 1961;24:718–723
- Criteria for the diagnosis of familial Mediterranean fever. Arthritis and Rheumatism. 1997;40(10):1879–1885
- . The spectrum of Familial Mediterranean Fever (FMF) mutations. European Journal of Human Genetics. 2001;9(7):473–483
- Country as the primary risk factor for renal amyloidosis in familial mediterranean fever. Arthritis and Rheumatism. 2007;56(5):1706–1712
- Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. The New England Journal of Medicine. 1986;314(16):1001–1005
- The effect of interferon alpha administration on acute attacks of familial Mediterranean fever: a double-blind, placebo-controlled trial. Clinical and Experimental Rheumatology. 2004;22(4 Suppl. 34):S37–S40
- Successful treatment of nephrotic syndrome due to FMF amyloidosis with azathioprine: report of three Turkish cases. Rheumatology International. 2006;
- . Successful treatment of familial Mediterranean fever attacks with thalidomide in a colchicine resistant patient. Clinical and Experimental Rheumatology. 2002;20(4 Suppl. 26):S43–S44
- . Peculiarities of PAPA syndrome. Rheumatology (Oxford, England). 2006;45(9):1140–1143
- . Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome. Pediatric Dermatology. 2005;22(3):262–265
- Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene. Journal of Inherited Metabolic Disease. 2000;23(4):367–370
- . Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet Journal of Rare Diseases. 2006;1:13
- . Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochimica Et Biophysica Acta. 2000;1529(1–3):19–32
- Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria. Journal of Inherited Metabolic Disease. 1992;15(5):738–746
- Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology (Oxford, England). 2007;46(10):1597–1600
- AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases. Arthritis and Rheumatism. 2006;54(6):2010–2014
- Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clinical Pharmacology and Therapeutics. 2004;75(5):476–483
- Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. The Netherlands Journal of Medicine. 2005;63(7):260–264
- Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo-controlled trial. The Journal of Pharmacology and Experimental Therapeutics. 2001;298(3):1221–1226
- Familial Hibernian fever. The Quarterly Journal of Medicine. 1982;51(204):469–480
- Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Annals of the Rheumatic Diseases. 2006;65(9):1158–1162
- Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology (Oxford, England). 2003;42(2):235–239
- Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis and Rheumatism. 2008;58(5):1516–1520
- . PFAPA syndrome. The Pediatric Infectious Disease Journal. 1989;8(9):658–659
- . Role of Tonsillectomy in PFAPA Syndrome. Archives of Otolaryngology Head & Neck Surgery. 2008;134(1):16–19
- The Schnitzler syndrome: Chronic urticaria and monoclonal gammopathy – an autoinflammatory syndrome?. Journal der Deutschen Dermatologischen Gesellschaft. 2008;
- Schnitzler syndrome: a dramatic improvement with anakinra. Journal of the European Academy of Dermatology and Venereology. 2008;
- . Colchicine in the treatment of the cutaneous manifestations of Behcet's disease. The British Journal of Dermatology. 1981;104(1):67–69
- Thalidomide in the treatment of the mucocutaneous lesions of the Behcet syndrome. A randomized, double-blind, placebo-controlled trial. Annals of Internal Medicine. 1998;128(6):443–450
- . Behcet's syndrome: treatment with recombinant leukocyte alpha- interferon. Archives for Dermatological Research. 1986;278(4):335–336
- . Behcet's disease. The New England Journal of Medicine. 1999;341(17):1284–1291
- Differential efficacy of human recombinant interferon-alpha2a on ocular and extraocular manifestations of Behcet disease: results of an open 4-center trial. Seminars in Arthritis and Rheumatism. 2004;33(5):311–319
- Efficacy and safety of interferon-alpha in the treatment of corticodependent uveitis of paediatric Behcet's disease. Rheumatology (Oxford, England). 2007;46(10):1570–1573
- Short-term trial of etanercept in Behcet's disease: a double blind, placebo controlled study. The Journal of Rheumatology. 2005;32(1):98–105
- The infevers autoinflammatory mutation online registry: update with new genes and functions. Human Mutation. 2008;29(6):803–808
- MEFV mutations in Behcet's disease. Human Mutation. 2000;16(3):271–272
- . MEFV mutations are increased in Behcet's disease (BD) and are associated with vascular involvement. Clinical and Experimental Rheumatology. 2003;21(4 Suppl. 30):S35–S37
- Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behcet's disease. Arthritis and Rheumatism. 2005;52(2):608–611
- Autoinflammatory gene mutations in Behcet's disease. Annals of the Rheumatic Diseases. 2007;
- Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome. Rheumatology (Oxford, England). 2004;43(11):1405–1408
- Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis and Rheumatism. 2003;48(9):2645–2651
- Abnormal production of tumor necrosis factor (TNF) – alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome. [corrected] The Journal of Pediatrics. 2004;145(6):851–855
- Effect of infliximab on sight-threatening panuveitis in Behcet's disease. Lancet. 2001;358(9278):295–296
- Long-term efficacy and safety of etanercept in children with polyarticular-course juvenile rheumatoid arthritis: interim results from an ongoing multicenter, open-label, extended-treatment trial. Arthritis and Rheumatism. 2003;48(1):218–226
- . Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis and Rheumatism. 2004;50(2):607–612
- . The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever. European Journal of Pediatrics. 2008;167(6):695–696
- Allogenic bone marrow transplantation: cure for familial Mediterranean fever. Blood. 2002;100(3):774–777
- . Should patients with FMF undergo BMT?. Blood. 2003;101(3):1205;author reply -6
- Allogeneic bone marrow transplantation in mevalonic aciduria. The New England Journal of Medicine. 2007;356(26):2700–2703
PII: S1521-6942(08)00096-X
doi: 10.1016/j.berh.2008.08.009
© 2008 Elsevier Ltd. All rights reserved.
« Previous
Next »
Best Practice & Research Clinical Rheumatology
Volume 22, Issue 5
, Pages 811-829
, October 2008
