Identifying Mutations in Autoinflammatory Diseases: Towards Novel Genetic Tests and Therapies?

American Journal of PharmacoGenomics

Volumn 4, Issue 2, 2004, Pages 109-118

  Touitou, Isabelle ^a   Notarnicola, Cécile ^a   Grandemange, Sylvie ^a  

^a HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; ETANERCEPT; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INFLIXIMAB; INTERLEUKIN 1BETA; LEUKOTRIENE RECEPTOR BLOCKING AGENT; MEVALONIC ACID; PROTEIN; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

APOPTOSIS; AUTOIMMUNE DISEASE; AUTOINFLAMMATORY DISEASE; BLAU SYNDROME; CROHN DISEASE; CRYOPYRIN ASSOCIATED PERIODIC SYNDROME; DIAGNOSTIC ACCURACY; DRUG DESIGN; DRUG MECHANISM; EARLY DIAGNOSIS; ENZYME DEFICIENCY; FAMILIAL MEDITERRANEAN FEVER; FEVER; GENE MUTATION; GENETIC SCREENING; HUMAN; INFLAMMATION; INFLAMMATORY DISEASE; MEVALONATE KINASE DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; QUALITY OF LIFE; REVIEW; SIGNAL TRANSDUCTION; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME;

GENE THERAPY; GENETIC SCREENING; HUMANS; INFLAMMATION; MUTATION;

EID: 2342434551     PISSN: 11752203     EISSN: None     Source Type: Journal    
DOI: 10.2165/00129785-200404020-00005     Document Type: Review

References (86)

1. McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97: 133-44
2. Drenth JP, van der Meer JW. Hereditary periodic fever. N Engl J Med 2001; 345: 1748-57
3. Frenkel J, Kuis W. Overt and occult rheumatic diseases: the child with chronic fever. Best Pract Res Clin Rheumatol 2002; 16: 443-69
4. McDermott MF. Genetic clues to understanding periodic fevers, and possible therapies. Trends Mol Med 2002; 8: 550-4
5. Hull KM, Shoham N, Chae JJ, et al. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol 2003; 15: 61-9
6. Galon J, Aksentijevich I, McDermott MF, et al. TNFRSF1A mutations and autoinflammatory syndromes. Curr Opin Immunol 2000; 12: 479-86
7. Heller HSE, Sherf L. Familial Mediterranean fever (FMF). Arch Intern Med 1958; 102: 50-71
8. Online Mendelian Inheritance in Man™ database [online]. Available from URL: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?.db=OMIM [Accessed 2004 Feb 201
9. Houten SM, Frenkel J, Waterham HR. Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cell Mol Life Sci 2003; 60: 1118-34
10. Grateau G, Pecheux C, Cazeneuve C, et al. Clinical versus genetic diagnosis of familial Mediterranean fever. QJM 2000; 93: 223-9
11. Hull KM, Drewe E, Aksentijevich I, et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002; 81: 349-68
12. Dode C, Andre M, Bienvenu T, et al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002; 46: 2181-8
13. Prietsch V, Mayatepek E, Krastel H, et al. Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics 2003; 111: 258-61
14. Aganna E, Martinon F, Hawkins PN, et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum 2002; 46: 2445-52
15. 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
16. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17: 25-31
17. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90: 797-807
18. Drenth JP, Cuisset L, Grateau G, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome: International Hyper-IgD Study Group. Nat Genet 1999; 22: 178-81
19. Feldmann J, Prieur AM, Quartier P, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002; 71: 198-203
20. Hoffman HM, Mueller JL, Broide DH, et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29: 301-5
21. The repertory of familial Mediterranean fever (FMF) and hereditary autoinflammatory disorders mutations: INFEVERS database [online]. Available from URL: http://fmf.igh.cnrs.fr/infevers/ [Accessed 2004 Feb 20]
22. Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 2001; 9: 473-83
23. Aksentijevich I, Galon J, Soares M, et al. 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. Am J Hum Genet 2001; 69: 301-14
24. Aganna E, Aksentijevich I, Hitman GA, et al. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance. Eur J Hum Genet 2001; 9: 63-6
25. Aganna E, Hammond L, Hawkins PN, et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003; 48: 2632-44
26. Dode C, Papo T, Fieschi C, et al. A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family. Arthritis Rheum 2000; 43: 1535-42
27. Jadoul M, Dode C, Cosyns JP, et al. Autosomal-dominant periodic fever with AA amyloidosis: novel mutation in tumor necrosis factor receptor 1 gene [rapid communication]. Kidney Int 2001; 59: 1677-82
28. Rosen-Wolff A, Kreth HW, Hofmann S, et al. Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients. Eur J Haematol 2001; 67: 105-9
29. Simon A, Dode C, van der Meer JW, et al. Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene. Am J Med 2001; 110: 313-6
30. Weyhreter H, Schwartz M, Kristensen TD, et al. A new mutation causing autosomal dominant periodic fever syndrome in a Danish family. J Pediatr 2003; 142: 191-3
31. Houten SM, Koster J, Romeijn GJ, et al. Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. Eur J Hum Genet 2001; 9: 253-9
32. Simon A, Cuisset L, Vincent MF, et al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med 2001; 135: 338-43
33. Hinson DD, Ross RM, Krisans S, et al. Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am J Hum Genet 1999; 65: 327-35
34. 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
35. Dode C, Le Du N, Cuisset L, et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet 2002; 70: 1498-506
36. Giedion A, Holthusen W, Masel LF, et al. Subacute and chronic "symmetrical" osteomyclitis [in French]. Ann Radiol (Paris) 1972; 15: 329-42
37. Marshall GS, Edwards KM, Butler J, et al. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 1987; 110: 43-6
38. Behcet H. Some observation on the clinical picture of the so-called triple symptom complex. Dermatologica 1940; 81: 73-8
39. Drenth JP, van Deuren M, van der Ven-Jongekrijg J, et al. Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Blood 1995; 85: 3586-93
40. Gang N, Drenth JP, Langevitz P, et al. Activation of the cytokine network in familial Mediterranean fever. J Rheumatol 1999; 26: 890-7
41. de Dios Garcia-Diaz J, Alvarez-Blanco MJ. High IgD could be a nonpathogenetic diagnostic marker of the hyper-IgD and periodic fever syndrome [letter]. Ann Allergy Asthma Immunol 2001; 86: 587
42. Tunca M, Kirkali G, Soyturk M, et al. Acute phase response and evolution of familial Mediterranean fever. Lancet 1999; 353: 1415
43. Danon YL, Laor A, Shlezinger M, et al. Decreased incidence of asthma in patients with familial Mediterranean fever. Isr J Med Sci 1990; 26: 459-60
44. Brenner-Ullman A, Melzer-Ofir H, Daniels M, et al. Possible protection against asthma in heterozygotes for familial Mediterranean fever. Am J Med Genet 1994; 53: 172-5
45. Ozyilkan E, Simsek H, Telatar H. Absence of asthma in patients with familial Mediterranean fever. Isr J Med Sci 1994; 30: 237-8
46. Langevitz P, Zandman-Godard G, Blank M, et al. SLE in FMF: the possible role of serum amyloid protein (SAP). Clin Exp Rheumatol 2002; 20: S-82
47. Kallinich T, Bunikowsky R, Keitzer R. Hyper-IGD syndrome in two related families from the Libanon, occurence of co-morbidity or rare symptoms of this disorder [abstract]. Clin Exp Rheumatol 2002; 20: s-76
48. Langevitz P, Livneh A, Zemer D, et al. Seronegative spondyloarthropathy in familial Mediterranean fever. Semin Arthritis Rheum 1997; 27: 67-72
49. Incel NA, Saracoglu M, Erdem HR. Seronegative spondyloarthropathy of familial Mediterranean fever. Rheumatol Int 2003; 23: 41-3
50. Minuk GY, Lewkonia RM. Possible familial association of multiple sclerosis and inflammatory bowel disease [letter]. N Engl J Med 1986; 314: 586
51. Purrmann J, Arendt G, Cleveland S, et al. Association of Crohn's disease and multiple sclerosis: is there a common background? J Clin Gastroenterol 1992; 14: 43-6
52. Kimura K, Hunter SF, Thollander MS, et al. Concurrence of inflammatory bowel disease and multiple sclerosis. Mayo Clin Proc 2000; 75: 802-6
53. Houman H, Ben Dahmen F, Ben Ghorbel I, et al. Behcet's disease associated with Crohn's disease [in French]. Ann Med Interne (Paris) 2001; 152: 480-2
54. Yuan W, Tang L. A case of Crohn's disease complicated with Behcet's syndrome [in Chinese]. Hunan Yi Ke Da Xue Xue Bao 1998; 23: 616
55. Tolia V, Abdullah A, Thirumoorthi MC, et al. A case of Behcet's disease with intestinal involvement due to Crohn's disease. Am J Gastroenterol 1989; 84: 322-5
56. Cattan D, Notarnicola C, Molinari N, et al. Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever. Lancet 2000; 355: 378-9
57. Fidder HH, Chowers Y, Lidar M, et al. Crohn disease in patients with familial Mediterranean fever. Medicine (Baltimore) 2002; 81: 411-6
58. Livneh A, Aksentijevich I, Langevitz P, et al. A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behcet's disease (FMF-BD). Eur J Hum Genet 2001; 9: 191-6
59. Touitou I, Magne X, Molinari N, et al. MEFV mutations in Behcet's disease. Hum Mutat 2000; 16: 271-2
60. Shinar Y, Livneh A, Villa Y, et al. Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients. Genes Immun 2003; 4: 197-203
61. Rabinovitz E, Livneh A, Langevitz P, et al. Mediterranean fever gene (MEFV) mutations and rheumatoid arthritis: a severe combination. Clin Exp Rheumatol 2002; 20: S-73
62. Ozdogan H, Sayhan N, Melikoglu M, et al. MEFV gene mutations in Turkish patients with FMF amyloidosis versus other secondary amyloidosis [abstract]. Clin Exp Rheumatol 2000; 18: E5
63. Bybee B, Booth D, Rowczenio D, et al. Findings of a MEFV screening program in a British center [abstract]. Clin Exp Rheumatol 2002; 20: S-91
64. Obici L, Palladini G, Marciano S, et al. Molecular characterization of tumor necrosis factor receptor associated periodic syndrome (TRAPS) in Italy: identification of novel and recurrent mutations and eidence for a high frequency of the R92Q allele in the Italian population [abstract]. Clin Exp Rheumatol 2002; 20: S-76
65. Arkwright PD, McDermott MF, Houten SM, et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin Exp Immunol 2002; 130: 484-8
66. Inohara N, Nunez G. NODs: intracellular proteins involved in inflammation and apoptosis. Nat Rev Immunol 2003; 3: 371-82
67. Tschopp J, Martinon F, Burns K. NALPs: a novel protein family involved in inflammation. Nat Rev Mol Cell Biol 2003; 4: 95-104
68. Mansfield E, Chae JJ, Komarow HD, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001; 98: 851-9
69. Fairbrother WJ, Gordon NC, Humke EW, et al. The PYRIN domain: a member of the death domain-fold superfamily. Protein Sci 2001; 10: 1911-8
70. Martinon F, Hofmann K, Tschopp J. The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation. Curr Biol 2001; 11: R118-20
71. Masumoto J, Taniguchi S, Ayukawa K, et al. ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells. J Biol Chem 1999; 274: 33835-8
72. Stehlik C, Fiorentino L, Dorfleutner A, et al. The PAAD/PYRIN-family protein ASC is a dual regulator of a conserved step in nuclear factor kappaB activation pathways. J Exp Med 2002; 196: 1605-15
73. Srinivasula SM, Poyet JL, Razmara M, et al. The PYRIN-CARD protein ASC is an activating adaptor for caspase-1. J Biol Chem 2002; 277: 21119-22
74. Richards N, Schaner P, Diaz A, et al. Interaction between pyrin and the apoptotic speck protein (ASC) modulates ASC-induced apoptosis. J Biol Chem 2001; 276: 39320-9
75. Manji GA, Wang L, Geddes BJ, et al. PYPAF1, a PYRIN-containing Apafl-like protein that assembles with ASC and regulates activation of NF-kappa B. J Biol Chem 2002; 277: 11570-5
76. Dowds TA, Masumoto J, Chen FF, et al. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Biochem Biophys Res Commun 2003; 302: 575-80
77. Stehlik C, Krajewska M, Welsh K, et al. The PAAD/PYRIN-only protein POP1/ASC2 is a modulator of ASC-mediated nuclear-factor-kappa B and pro-caspase-1 regulation. Biochem J 2003; 373: 101-13
78. Lee SH, Stehlik C, Reed JC. Cop, a caspase recruitment domain-containing protein and inhibitor of caspase-1 activation processing. J Biol Chem 2001; 276: 34495-500
79. Harton JA, Linhoff MW, Zhang J, et al. Cutting edge: CATERPILLER: a large family of mammalian genes containing CARD, pyrin, nucleotide-binding, and leucine-rich repeat domains. J Immunol 2002; 169: 4088-93
80. Almawi WY, Melemedjian OK. Negative regulation of nuclear factor-kappaB activation and function by glucocorticoids. J Mol Endocrinol 2002; 28: 69-78
81. Aeberli D, Oertle S, Mauron H, et al. Inhibition of the TNF-pathway: use of infliximab and etanercept as remission-inducing agents in cases of therapy-resistant chronic inflammatory disorders. Swiss Med Wkly 2002; 132: 414-22
82. Drewe E, McDermott EM, Powell PT, et al. 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) 2003; 42: 235-9
83. Hawkins PN, Lachmann HJ, McDermott MF. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med 2003; 348: 2583-4
84. Chae JJ, Komarow HD, Cheng J, et al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 2003; 11: 591-604
85. Houten SM, Van Woerden CS, Wijburg FA, et al. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet 2003; 11: 196-200
86. Gumucio DL, Diaz A, Schaner P, et al. Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis. Clin Exp Rheumatol 2002; 20: S45-53