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Abbott DW, Wilkins A, Asara JM, Cantley LC (2004) The Crohn's disease protein NOD2, requires RIP2 in order to induce ubiquitinylation of a novel site on NEMO Curr Biol 14:2217-2227

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Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ et al (2003) Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome pheno-types. Arthritis Rheum 48:2632-2644 Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20:319-325 Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G et al (1999) Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 64:949-962 Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ et al (2001) 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 69:301-314 Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P et al (2002) 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 46:33403348

Al-Alami JR, Tayeh MK, Najib DA, Abu-Rubaiha ZA, Majeed HA, Al-Khateeb MS, El-Shanti HI (2003) Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population. Saudi Med J 24:1055-1059 Albrecht M, Domingues FS, Schreiber S, Lengauer T (2003) Structural localization of disease-associated sequence variations in the NACHT and LRR domains of PYPAF1 and NOD2. FEBS Lett 554:520-528 Aspenstrom P (1997) A Cdc42 target protein with homology to the non-kinase domain of FER has a potential role in regulating the actin cytoskeleton. Curr Biol 7:479487

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forging the link between actin and cell activation. Immunol Rev 192:98-112 Badour K, Zhang J, Shi F, Leng Y, Collins M, Siminovitch KA (2004) Fyn and PTP-PEST-mediated regulation of Wiskott-Aldrich syndrome protein (WASp) tyrosine phosphorylation is required for coupling T cell antigen receptor engagement to WASp effector function and T cell activation. J Exp Med 199:99-112 Banner DW, D'Arcy A, Janes W, Gentz R, Schoenfeld HJ, Broger C, Loetscher H, Lesslauer W (1993) Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation. Cell 73:431-445 Ben-Chetrit E, Levy M (1998) Does the lack of the P-glycoprotein efflux pump in neutrophils explain the efficacy of colchicine in familial Mediterranean fever and other inflammatory diseases? Med Hypotheses 51:377-380 Bertin J, DiStefano PS (2000) The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. Cell Death Differ 7:1273-1274 Blau EB (1985) Familial granulomatous arthritis, iritis, and rash. J Pediatr 107:689-693 Booth DR, Gillmore JD, Lachmann HJ, Booth SE, Bybee A, Soyturk M, Akar S, Pepys MB, Tunca M, Hawkins PN (2000) The genetic basis of autosomal dominant familial Mediterranean fever. Q J Med 93:217-221 Brakebusch C, Varfolomeev EE, Batkin M, Wallach D (1994) Structural requirements for inducible shedding of the p55 tumor necrosis factor receptor. J Biol Chem 269:32488-32496

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Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, Kingma DW, Hor-witz ME, Mansfield E, Holland SM et al (2000) The gene for familial Mediterranean fever MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95:3223-3231 Chae JJ, Komarow HD, Cheng J, Wood G, Raben N, Liu PP, Kastner DL (2003) Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 11:591-604 Chamaillard M, Girardin SE, Viala J, Philpott DJ (2003a) Nods Nalps and Naip: intracellular regulators of bacterial-induced inflammation. Cell Microbiol 5:581-592 Chamaillard M, Philpott D, Girardin SE, Zouali H, Lesage S, Chareyre F, Bui TH, Gio-vannini M, Zaehringer U, Penard-Lacronique V et al (2003b) Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci U S A 100:3455-3460 Chan FK, Chun HJ, Zheng L, Siegel RM, Bui KL, Lenardo MJ (2000) A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling. Science 288:2351-2354

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Cote JF, Chung PL, Theberge JF, Halle M, Spencer S, Lasky LA, Tremblay ML (2002) PSTPIP is a substrate of PTP-PEST and serves as a scaffold guiding PTP-PEST toward a specific dephosphorylation of WASP J Biol Chem 277:2973-2986 Cronstein BN, Molad Y, Reibman J, Balakhane E, Levin RI, Weissmann G (1995) Colchicine alters the quantitative and qualitative display of selectins on endothelial cells and neutrophils. J Clin Invest 96:994-1002 Cuisset L, Drenth JP, Simon A, Vincent MF, van der Velde Visser S, van der Meer JW, Grateau G, Delpech M (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum. Genet 9:260-266 Dailey NJ, Aksentijevich I, Chae JJ, Wesley R, Snyder C, Magalnick M, Watford WT, Gelabert A, Jones J, Pham T-H et al (2004) Interleukin-1 receptor antagonist anakinra in the treatment of neonatal onset multisystem inflammatory disease. Arthritis Rheum 50:S440 Diaz A, Hu C, Kastner DL, Schaner P, Reginato AM, Richards N, Gumucio DL (2004) Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. Arthritis Rheum 50:3679-3689

Dinarello CA, Wolff SM, Goldfinger SE, Dale DC, Alling DW (1974) Colchicine therapy for familial Mediterranean fever. A double-blind trial. N Engl J Med 291:934-937 Dinarello CA, Chusid MJ, Fauci AS, Gallin JI, Dale DC, Wolff SM (1976) Effect of prophylactic colchicine therapy on leukocyte function in patients with familial Mediterranean fever. Arthritis Rheum 19:618-622 Dode C, Le Du N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DG, Nicholls A et al (2002) 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 70:1498-1506 Dowds TA, Masumoto J, Chen FF, Ogura Y, Inohara N, Nunez G (2003) Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Biochem Biophys Res Commun 302:575-580 Dowds TA, Masumoto J, Zhu L, Inohara N, Nunez G (2004) Cryopyrin-induced inter-leukin 1beta secretion in monocytic cells: enhanced activity of disease-associated mutants and requirement for ASC. J Biol Chem 279:21924-21928 Drenth JP, Haagsma CJ, van der Meer JW (1994) Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 73:133-144 Drenth JP, Goertz J, Daha MR, van der Meer JW (1996) Immunoglobulin D enhances the release of tumor necrosis factor-alpha, and interleukin-1 beta as well as interleukin-1 receptor antagonist from human mononuclear cells. Immunology 88:355-362

Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 22:178-181

Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ (2003) 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) 42:235-239

Duzova A, Bakkaloglu A, Besbas N, Topaloglu R, Ozen S, Ozaltin F, Bassoy Y, Yilmaz E (2003) Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin Exp Rheumatol 21:509-514 Eckmann L, Karin M (2005) NOD2 and Crohn's disease: loss or gain of function?

Immunity 22:661-667 EliezerD (2003) Folding pyrin into the family. Structure (Camb) 11:1190-1191 Engelmann H, Holtmann H, Brakebusch C, Avni YS, Sarov I, Nophar Y, Hadas E, Leitner O, Wallach D (1990) Antibodies to a soluble form of a tumor necrosis factor (TNF) receptor have TNF-like activity. J Biol Chem 265:14497-14504 Fairbrother WJ, Gordon NC, Humke EW, O'Rourke KM, Starovasnik MA, Yin JP, Dixit VM (2001) The PYRIN domain: a member of the death domain-fold super-family. Protein Sci 10:1911-1918 Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G (2002) 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 71:198-203 French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17:25-31

Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van LuijkW,Poll-The BT, KuisW (2001) Clinical andmolecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. Rheumatology (Oxford) 40:579-584

Frenkel J, Rijkers GT, Mandey SH, Buurman SW, Houten SM, Wanders RJ, Water-ham HR, Kuis W (2002) Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 46:2794-2803 Frenkel J, Wulffraat NM, Kuis W (2004) Anakinra in mutation-negative NO-MID/CINCA syndrome: comment on the articles by Hawkins et al and Hoffman and Patel. Arthritis Rheum 50:3738-3739; author reply 3739-3740 Galon J, Aksentijevich I, McDermott MF, O'Shea JJ, Kastner DL (2000) TNFRSF1A

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Harton JA, Linhoff MW, Zhang J, Ting JP (2002) Cutting edge: CATERPILLER: a large family of mammalian genes containing CARD, pyrin, nucleotide-binding, and leucine-rich repeat domains. J Immunol 169:4088-4093

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Arthritis Rheum 26:668-673 Hawkins PN, Bybee A, Aganna E, McDermott MF (2004a) Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease. Arthritis Rheum 50:2708-2709

Hawkins PN, Lachmann HJ, Aganna E, McDermott MF (2004b) Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 50:607-612

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