Cryopyrin-associated periodic syndromes: development of a patient-reported outcomes instrument to assess the pattern and severity of clinical disease activity

References

• 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;29:301–51. 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
   PubMed Web of Science ®Google Scholar
• 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;71:198–2032. 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
   PubMed Web of Science ®Google Scholar
• 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;46:3340–83. 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
   PubMed Web of Science ®Google Scholar
• Hull KM, Shoham N, Chae JJ. et al. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol 2003;15:61–94. 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
   PubMed Web of Science ®Google Scholar
• Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 2001;108:615–205. Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 2001;108:615–20
   PubMed Web of Science ®Google Scholar
• Hawkins PN, Lachmann HJ, Aganna E. et al. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004;50:607–126. Hawkins PN, Lachmann HJ, Aganna E. et al. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 2004;50:607–12
   PubMed Web of Science ®Google Scholar
• Aksentijevich I, Putnam C, Remmers EF. et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007;56:1273–57. Aksentijevich I, Putnam C, Remmers EF. et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007;56:1273–5
   PubMed Web of Science ®Google Scholar
• Neven B. CINCA syndrome 2007 Available at: http://www.orpha.net/static/GB/cinca_syndrome.html [Accessed 4/10/2007]8. Neven B. CINCA syndrome 2007Available at: http://www.orpha.net/static/GB/cinca_syndrome.html [Accessed 4/10/2007]
   Google Scholar
• O’Connell SM, O’Regan GM, Bolger T. et al. Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. Pediatr Dermatol 2007;24:85–99. O’Connell SM, O’Regan GM, Bolger T. et al. Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. Pediatr Dermatol 2007;24:85–9
   PubMed Web of Science ®Google Scholar
• Tunca M, Ozdogan H. Molecular and genetic characteristics of hereditary autoinflammatory diseases. Curr Drug Targets Inflamm Allergy 2005;4:77–8010. Tunca M, Ozdogan H. Molecular and genetic characteristics of hereditary autoinflammatory diseases. Curr Drug Targets Inflamm Allergy 2005;4:77–80
   PubMedGoogle Scholar
• Leslie KS, Lachmann HJ, Bruning E. et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol 2006;142:1591–711. Leslie KS, Lachmann HJ, Bruning E. et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol 2006;142:1591–7
   PubMed Web of Science ®Google Scholar
• Hoffman HM, Rosengren S, Boyle DL. et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 2004;364:1779–8512. Hoffman HM, Rosengren S, Boyle DL. et al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 2004;364:1779–85
   PubMed Web of Science ®Google Scholar
• Goldbach-Mansky R, Dailey NJ, Canna SW. et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. New Engl J Med 2006;355:581–9213. Goldbach-Mansky R, Dailey NJ, Canna SW. et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. New Engl J Med 2006;355:581–92
   PubMed Web of Science ®Google Scholar
• Canna S, Gelabert A, Aksentijevich I. et al. Treatment of 4 patients with cryopyrin-associated periodic syndromes with the long acting IL-1 inhibitor IL-TRAP. Ann Rheum Dis 2005;64 Suppl 3:10614. Canna S, Gelabert A, Aksentijevich I. et al. Treatment of 4 patients with cryopyrin-associated periodic syndromes with the long acting IL-1 inhibitor IL-TRAP. Ann Rheum Dis 2005;64 Suppl 3:106
   Google Scholar
• Hoffman HM, Throne ML, Amar NJ. et al. Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndrome: results from two sequential placebo-controlled studies. Arthritis Rheum 2008 [in press]15. Hoffman HM, Throne ML, Amar NJ. et al. Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndrome: results from two sequential placebo-controlled studies. Arthritis Rheum 2008[in press]
   Web of Science ®Google Scholar
• Krupp LB, LaRocca NG, Muir-Nash J. et al. The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol 1989;46:1121–2316. Krupp LB, LaRocca NG, Muir-Nash J. et al. The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol 1989;46:1121–23
   PubMed Web of Science ®Google Scholar
• Wolfe F, Michaud K, Pincus T. Development and validation of the health assessment questionnaire II: a revised version of the health assessment questionnaire. Arthritis Rheum 2004;50:3296–30517. Wolfe F, Michaud K, Pincus T. Development and validation of the health assessment questionnaire II: a revised version of the health assessment questionnaire. Arthritis Rheum 2004;50:3296–305
   PubMed Web of Science ®Google Scholar
• Wolfe F, Michaud K, Pincus T. A composite disease activity scale for clinical practice, observational studies, and clinical trials: the patient activity scale (PAS/PAS-II). J Rheumatol 2005;32:2410–518. Wolfe F, Michaud K, Pincus T. A composite disease activity scale for clinical practice, observational studies, and clinical trials: the patient activity scale (PAS/PAS-II). J Rheumatol 2005;32:2410–5
   PubMed Web of Science ®Google Scholar
• Wolfe F, Rasker JJ. The symptom intensity scale, fibromyalgia, and the meaning of fibromyalgia-like symptoms. J Rheumatol 2006;33:2291–919. Wolfe F, Rasker JJ. The symptom intensity scale, fibromyalgia, and the meaning of fibromyalgia-like symptoms. J Rheumatol 2006;33:2291–9
   PubMed Web of Science ®Google Scholar
• Devoulyte K, Sullivan MJ. Pain catastrophizing and symptom severity during upper respiratory tract illness. Clin J Pain 2003;19:125–3320. Devoulyte K, Sullivan MJ. Pain catastrophizing and symptom severity during upper respiratory tract illness. Clin J Pain 2003;19:125–33
   PubMed Web of Science ®Google Scholar
• Duong M, Subbarao P, Adelroth E. et al. Sputum eosinophils and the response of exercise-induced bronchoconstriction to corticosteroid in asthma. Chest 2008;133:404–1121. Duong M, Subbarao P, Adelroth E. et al. Sputum eosinophils and the response of exercise-induced bronchoconstriction to corticosteroid in asthma. Chest 2008;133:404–11
   PubMed Web of Science ®Google Scholar
• Bollen KA. Structural equations with latent variables. New York (NY): Wiley Interscience Publications, J. Wiley & Sons198922. Bollen KA. Structural equations with latent variables. New York (NY): Wiley Interscience Publications, J. Wiley & Sons1989
   Google Scholar
• Shaver TS, Anderson JD, Weidensaul DN. et al. The problem of rheumatoid arthritis disease activity and remission in clinical practice. J Rheumatol 2008 [April 15, epub ahead of print]23. Shaver TS, Anderson JD, Weidensaul DN. et al. The problem of rheumatoid arthritis disease activity and remission in clinical practice. J Rheumatol 2008[April 15, epub ahead of print]
   PubMedGoogle Scholar
• Kahn KL, Maclean CH, Wong AL. et al. Assessment of American College of Rheumatology quality criteria for rheumatoid arthritis in a pre-quality criteria patient cohort. Arthritis Rheum 2007;57:707–1524. Kahn KL, Maclean CH, Wong AL. et al. Assessment of American College of Rheumatology quality criteria for rheumatoid arthritis in a pre-quality criteria patient cohort. Arthritis Rheum 2007;57:707–15
   PubMed Web of Science ®Google Scholar
• McDermott MF, Frenkel J. Hereditary periodic fever syndromes. Neth J Med 2001;59:118–2525. McDermott MF, Frenkel J. Hereditary periodic fever syndromes. Neth J Med 2001;59:118–25
   PubMed Web of Science ®Google Scholar
• Hilliquin P. Biological markers in inflammatory rheumatic diseases. Cell Mol Biol 1995;41:993–100626. Hilliquin P. Biological markers in inflammatory rheumatic diseases. Cell Mol Biol 1995;41:993–1006
   PubMed Web of Science ®Google Scholar
• Pepys MB, Baltz ML. Acute phase proteins with special reference to C-reactive protein and related proteins (pentaxins) and serum amyloid A protein. Adv Immunol 1983;34:141–21227. Pepys MB, Baltz ML. Acute phase proteins with special reference to C-reactive protein and related proteins (pentaxins) and serum amyloid A protein. Adv Immunol 1983;34:141–212
   PubMed Web of Science ®Google Scholar
• Yalcinkaya F, Cakar N, Acar B. et al. The value of the levels of acute phase reactants for the prediction of familial Mediterranean fever associated amyloidosis: a case control study. Rheumatol Int 2007;27:517–2228. Yalcinkaya F, Cakar N, Acar B. et al. The value of the levels of acute phase reactants for the prediction of familial Mediterranean fever associated amyloidosis: a case control study. Rheumatol Int 2007;27:517–22
   PubMed Web of Science ®Google Scholar
• Mirault T, Launay D, Cuisset L. et al. Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. Arthritis Rheum 2006;54:1697–170029. Mirault T, Launay D, Cuisset L. et al. Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. Arthritis Rheum 2006;54:1697–1700
   PubMed Web of Science ®Google Scholar
• Pithukpakorn M, Aksentijevich I, Toro JR. Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy. Adv Dermatol 2006;22:67–9030. Pithukpakorn M, Aksentijevich I, Toro JR. Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy. Adv Dermatol 2006;22:67–90
   PubMedGoogle Scholar
• Guyatt GH, Bombardier C, Tugwell PX. Measuring disease specific quality of life in clinical trials. Can Med Assoc J 1986;134:889–9531. Guyatt GH, Bombardier C, Tugwell PX. Measuring disease specific quality of life in clinical trials. Can Med Assoc J 1986;134:889–95
   PubMed Web of Science ®Google Scholar
• Kirshner B, Guyatt GH. A methodological framework for assessing health indices. J Chronic Dis 1985;38:27–3632. Kirshner B, Guyatt GH. A methodological framework for assessing health indices. J Chronic Dis 1985;38:27–36
   PubMedGoogle Scholar
• Van Oene CM, Van Reij EJ, Sprangers MA. et al. Quality-assessment of disease-specific quality of life questionnaires for rhinitis and rhinosinusitis: a systematic review. Allergy 2007;62:1359–7133. Van Oene CM, Van Reij EJ, Sprangers MA. et al. Quality-assessment of disease-specific quality of life questionnaires for rhinitis and rhinosinusitis: a systematic review. Allergy 2007;62:1359–71
   PubMed Web of Science ®Google Scholar