Correspondence
Interleukin-1–Receptor Antagonist in the Muckle–Wells Syndrome
N Engl J Med 2003; 348:2583-2584June 19, 2003
- Article
To the Editor:
Studies of hereditary inflammatory disorders have identified novel genes and pathways that may be involved in inflammation and apoptosis generally. Mutations in one such gene, variously named NALP3, CIAS1, and PYPAF1, were recently identified as the cause of the Muckle–Wells syndrome and the familial cold autoinflammatory syndrome1 and have lately also been associated with neonatal-onset multisystem inflammatory disease.2 Interleukin-1 is a key proinflammatory cytokine that contributes to increased synthesis of serum amyloid A protein by hepatocytes during the acute-phase response. The availability of a recombinant interleukin-1–receptor antagonist for clinical use enabled us to undertake a trial of this agent in two patients with the Muckle–Wells syndrome and the nephrotic syndrome due to AA amyloidosis whose inflammatory disease and abundant production of serum amyloid A protein had not been suppressed despite the administration of many drugs.
The patients were a man from northern India (Patient 1) and a British–Spanish man (Patient 2) who were both heterozygous for the NALP3/CIAS11/PYPAF1 variant R262W (also noted as R260W), as previously reported.3 Clinical features included daily fevers, rashes, conjunctival inflammation, arthralgic limb pain, and an intense but variable acute-phase serum amyloid A protein response. AA amyloidosis is usually progressive and life-threatening, but if inflammation remits and the production of serum amyloid A protein decreases to trace levels, the amyloid deposits often gradually regress, and the nephrotic syndrome may resolve.4 Treatment with colchicine, low-dose corticosteroids, chlorambucil, antihistamines, dapsone, azathioprine, mycophenolate mofetil, and infliximab had been unsuccessful, as determined by clinical measures and monthly estimates of the plasma concentration of serum amyloid A protein. High-dose corticosteroids and, in one patient, thalidomide had been partially effective.
Both patients consented to undergo a therapeutic trial of the recombinant human interleukin-1–receptor antagonist anakinra (Kineret, Amgen) given by subcutaneous injection at a dose of 100 mg daily, which is the schedule recommended for rheumatoid arthritis. Their inflammatory symptoms ceased within hours of the first injection, and both patients' plasma concentrations of serum amyloid A protein decreased to normal base-line values within three days and remained below 2 mg per liter (normal range, <10 mg per liter) on frequent testing for two months (Figure 1Figure 1
Serial Measurements of Plasma Concentrations of Serum Amyloid A Protein in Two Patients with the Muckle –Wells Syndrome.). This response has now been sustained for six months in both patients, and the amyloid-related proteinuria has diminished substantially, with protein excretion decreasing from 11.2 g to 4.9 g per day in one patient and from 10.2 g to 2.3 g per day in the other. Glomerular filtration has remained normal in both cases.Recombinant human interleukin-1–receptor antagonist is modestly effective in rheumatoid arthritis,5 whereas its remarkable effect in the Muckle–Wells syndrome supports in vitro findings2 that point to the fundamental role of interleukin-1 in the pathogenesis of this disorder. The pathways and interactions of proteins in the NALP/CIAS/PYPAF superfamily are complex, but clinical studies with highly specific biologic drugs may contribute to their elucidation. The efficacy of interleukin-1–receptor antagonist in the Muckle–Wells syndrome strongly supports studies of this agent for the treatment of neonatal-onset multisystem inflammatory disease and the familial cold autoinflammatory syndrome.
5 ReferencesPhilip N. Hawkins, Ph.D., F.R.C.P.
Helen J. Lachmann, M.D., M.R.C.P.
Royal Free Hospital, London NW3 2PF, United Kingdom
p.n. hawkins@rfc. ucl. ac. uk Michael F. McDermott, M.R.C.P.I.
Royal London Hospital, London E1 1BB, United Kingdom1
Hoffman HM ,Mueller JL ,Broide DH ,Wanderer AA ,Kolodner RD . Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001;29:301-305
CrossRef | Web of Science | Medline2
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;46:3340-3348
CrossRef | Web of Science | Medline3
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;46:2445-2452[Erratum, Arthritis Rheum 2002;46:3398.]
CrossRef | Web of Science | Medline4
Gillmore JD ,Lovat LB ,Persey MR ,Pepys MB ,Hawkins PM . Amyloid load and clinical outcome in AA amyloidosis in relation to circulating concentration of serum amyloid A protein. Lancet 2001;358:24-29
CrossRef | Web of Science | Medline5
Cohen S ,Hurd E ,Cush J , et al. Treatment of rheumatoid arthritis with anakinra, a recombinant human interleukin-1 receptor antagonist, in combination with methotrexate: results of a twenty-four-week, multicenter, randomized, double-blind, placebo-controlled trial. Arthritis Rheum 2002;46:614-624
CrossRef | Web of Science | Medline
- Citing Articles (138)
Citing Articles
1
Raquel Cuchacovich, Ignacio Garcia-Valladares, Luis R Espinoza. (2011) Pleiotropic effects of inflammasome modulation in chronic gout and associated comorbidities: potential therapeutic implications. International Journal of Clinical Rheumatology 6:6, 669-676
CrossRef2
Linda Rossi-Semerano, Isabelle Koné-Paut. (2011) Focus sur les inhibiteurs de l’interleukine 1. Revue du Rhumatisme Monographies
CrossRef3
Aarat M. Patel, Kathryn S. Torok. (2011) Canakinumab for the treatment of adult and pediatric cryopyrin-associated periodic syndromes (CAPS). Drug Development Research 72:7, 553-560
CrossRef4
Jaklien C. Leemans, Suzanne L. Cassel, Fayyaz S. Sutterwala. (2011) Sensing damage by the NLRP3 inflammasome. Immunological Reviews 243:1, 152-162
CrossRef5
H. J. Lachmann. (2011) Clinical Immunology Review Series: An approach to the patient with a periodic fever syndrome. Clinical & Experimental Immunology 165:3, 301-309
CrossRef6
Yuval Ramot, Tali Czarnowicki, Alex Maly, Paulina Navon-Elkan, Abraham Zlotogorski. (2011) Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome: A Case Report. Pediatric Dermatology 28:5, 538-541
CrossRef7
Mohamed Lamkanfi, Lieselotte Vande Walle, Thirumala-Devi Kanneganti. (2011) Deregulated inflammasome signaling in disease. Immunological Reviews 243:1, 163-173
CrossRef8
P. Menu, J. E. Vince. (2011) The NLRP3 inflammasome in health and disease: the good, the bad and the ugly. Clinical & Experimental Immunologyno-no
CrossRef9
Göran K Hansson, Lars Klareskog. (2011) Pulling down the plug on atherosclerosis: Cooling down the inflammasome. Nature Medicine 17:7, 790-791
CrossRef10
N.J.D. Weegerink, M. Schraders, J. Leijendeckers, K. Slieker, P.L.M. Huygen, L. Hoefsloot, J. Oostrik, R.J.E. Pennings, A. Simon, A. Snik, H. Kremer, H.P.M. Kunst. (2011) Audiometric characteristics of a Dutch family with Muckle-Wells syndrome. Hearing Research
CrossRef11
Charles A. Dinarello. (2011) A clinical perspective of IL-1β as the gatekeeper of inflammation. European Journal of Immunology 41:5, 1203-1217
CrossRef12
I. Jéru, S. Amselem. (2011) Inflammasome et interleukine 1. La Revue de Médecine Interne 32:4, 218-224
CrossRef13
, Seza Ozen, Joost Frenkel, Nicola Ruperto, Marco Gattorno. (2011) The Eurofever Project: towards better care for autoinflammatory diseases. European Journal of Pediatrics 170:4, 445-452
CrossRef14
S. Borghini, S. Tassi, S. Chiesa, F. Caroli, S. Carta, R. Caorsi, M. Fiore, L. Delfino, D. Lasigliè, C. Ferraris, E. Traggiai, M. Di Duca, G. Santamaria, A. D'Osualdo, M. Tosca, A. Martini, I. Ceccherini, A. Rubartelli, M. Gattorno. (2011) Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis & Rheumatism 63:3, 830-839
CrossRef15
Cristina Conforti-Andreoni, Paola Ricciardi-Castagnoli, Alessandra Mortellaro. (2011) The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond. Cellular and Molecular Immunology 8:2, 135-145
CrossRef16
Helen J. Lachmann, Pierre Quartier, Alexander So, Philip N. Hawkins. (2011) The emerging role of interleukin-1β in autoinflammatory diseases. Arthritis & Rheumatism 63:2, 314-324
CrossRef17
Justin R. Yu, Kieron S. Leslie. (2011) Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response. Current Allergy and Asthma Reports 11:1, 12-20
CrossRef18
Rupa Biswas, Melisa Bunderson-Schelvan, Andrij Holian. (2011) Potential Role of the Inflammasome-Derived Inflammatory Cytokines in Pulmonary Fibrosis. Pulmonary Medicine 2011, 1-8
CrossRef19
E. Lainka, M. Bielak, V. Hilger, O. Basu, U. Neudorf, H. Wittkowski, D. Holzinger, J. Roth, T. Niehues, D. Foell. (2011) Translational research network and patient registry for auto-inflammatory diseases. Rheumatology 50:1, 237-242
CrossRef20
Juan I. Aróstegui. (2011) Hereditary systemic autoinflammatory diseases. Reumatolog ía Cl ínica (English Edition) 7:1, 45-50
CrossRef21
Juan I. Aróstegui. (2011) Etiopatogenia de los síndromes asociados a criopirina: genética, bases moleculares y el inflamasoma. Medicina Clínica 136, 22-28
CrossRef22
Santiago Jiménez Treviño, Eduardo Ramos Polo. (2011) Tratamiento de los síndromes periódicos asociados a la criopirina (CAPS). Medicina Clínica 136, 29-33
CrossRef23
Victoria M. Wurster, James G. Carlucci, Kathryn M. Edwards. (2011) Periodic Fever Syndromes. Pediatric Annals 40:1, 48-54
CrossRef24
C. A. Dinarello. (2011) Blocking interleukin-1β in acute and chronic autoinflammatory diseases. Journal of Internal Medicine 269:1, 16-28
CrossRef25
Karyl Barron, Balu Athreya, Daniel Kastner. 2011. PERIODIC FEVER SYNDROMES AND OTHER INHERITED AUTOINFLAMMATORY DISEASES. , 642-660.
CrossRef26
Marco Gattorno, Alberto Martini. (2010) Treatment of autoinflammatory syndromes. Current Opinion in Pediatrics 22:6, 771-778
CrossRef27
Zachary Jacobs, Christina E. Ciaccio. (2010) Periodic Fever Syndromes. Current Allergy and Asthma Reports 10:6, 398-404
CrossRef28
Leigh D Church, Michael F McDermott. (2010) Canakinumab: a human anti-IL-1β monoclonal antibody for the treatment of cryopyrin-associated periodic syndromes. Expert Review of Clinical Immunology 6:6, 831-841
CrossRef29
V. Madan, H. Kingston, L. A. Jamieson, N. Goyal, R. Ead. (2010) Muckle-Wells syndrome/neonatal-onset multisystem inflammatory disease overlap associated with myelodysplasia and cerebrovascular accident. Clinical and Experimental Dermatology 35:7, 752-755
CrossRef30
I. Kötter, G. Horneff. (2010) IL-1-Antagonisten. Zeitschrift für Rheumatologie 69:7, 581-593
CrossRef31
Loredana Lepore, Giulia Paloni, Roberta Caorsi, Maria Alessio, Donato Rigante, Nicola Ruperto, Marco Cattalini, Alberto Tommasini, Francesco Zulian, Alessando Ventura, Alberto Martini, Marco Gattorno. (2010) Follow-Up and Quality of Life of Patients with Cryopyrin-Associated Periodic Syndromes Treated with Anakinra. The Journal of Pediatrics 157:2, 310-315.e1
CrossRef32
David C. Wilson, Anthony D. Marinov, Harry C. Blair, Daniel S. Bushnell, Susan D. Thompson, Yury Chaly, Raphael Hirsch. (2010) Follistatin-like protein 1 is a mesenchyme-derived inflammatory protein and may represent a biomarker for systemic-onset juvenile rheumatoid arthritis. Arthritis & Rheumatism 62:8, 2510-2516
CrossRef33
Gilles Grateau, Mehmet Tuncay Duruöz. (2010) Autoinflammatory conditions: when to suspect? How to treat?. Best Practice & Research Clinical Rheumatology 24:3, 401-411
CrossRef34
Tetsuo Kubota, Ryuji Koike. (2010) Cryopyrin-associated periodic syndromes: background and therapeutics. Modern Rheumatology 20:3, 213-221
CrossRef35
Alan A. Wanderer. (2010) Rationale and timeliness for IL-1β-targeted therapy to reduce allogeneic organ injury at procurement and to diminish risk of rejection after transplantation. Clinical Transplantation 24:3, 307-311
CrossRef36
Juan I. Aróstegui, Ma Dolores Lopez Saldaña, Mariona Pascal, Daniel Clemente, Marta Aymerich, Francesc Balaguer, Ajay Goel, Concepción Fournier del Castillo, Josefa Rius, Susana Plaza, Juan Carlos López Robledillo, Manel Juan, Mercedes Ibañez, Jordi Yagüe. (2010) A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism unde. Arthritis & Rheumatism 62:4, 1158-1166
CrossRef37
Fabio Martinon. (2010) Update on Biology: Uric Acid and the Activation of Immune and Inflammatory Cells. Current Rheumatology Reports 12:2, 135-141
CrossRef38
Cem Gabay, Céline Lamacchia, Gaby Palmer. (2010) IL-1 pathways in inflammation and human diseases. Nature Reviews Rheumatology 6:4, 232-241
CrossRef39
Graham P. Cook, Sinisa Savic, Miriam Wittmann, Michael F. McDermott. (2010) The NLRP3 inflammasome, a target for therapy in diverse disease states. European Journal of Immunology 40:3, 631-634
CrossRef40
Kate Schroder, Jurg Tschopp. (2010) The Inflammasomes. Cell 140:6, 821-832
CrossRef41
Yelda Bilginer, Nuray Aktay Ayaz, Seza Ozen. (2010) Anti-IL-1 treatment for secondary amyloidosis in an adolescent with FMF and Behçet’s disease. Clinical Rheumatology 29:2, 209-210
CrossRef42
Tomohiro Morishige, Yasuo Yoshioka, Aya Tanabe, Xinglei Yao, Shin-ichi Tsunoda, Yasuo Tsutsumi, Yohei Mukai, Naoki Okada, Shinsaku Nakagawa. (2010) Titanium dioxide induces different levels of IL-1β production dependent on its particle characteristics through caspase-1 activation mediated by reactive oxygen species and cathepsin B. Biochemical and Biophysical Research Communications 392:2, 160-165
CrossRef43
John E. Sims, Dirk E. Smith. (2010) The IL-1 family: regulators of immunity. Nature Reviews Immunology 10:2, 117
CrossRef44
Swarupa Chakraborty, Deepak Kumar Kaushik, Malvika Gupta, Anirban Basu. (2010) Inflammasome signaling at the heart of central nervous system pathology. Journal of Neuroscience ResearchNA-NA
CrossRef45
Bénédicte Neven, Isabelle Marvillet, Celine Terrada, Alice Ferster, Nathalie Boddaert, Vincent Couloignier, Graziella Pinto, Anne Pagnier, Christine Bodemer, Bahram Bodaghi, Marc Tardieu, Anne Marie Prieur, Pierre Quartier. (2010) Long-term efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis & Rheumatism 62:1, 258-267
CrossRef46
Naotomo Kambe, Yuumi Nakamura, Megumu Saito, Ryuta Nishikomori. (2010) The Inflammasome, an Innate Immunity Guardian, Participates in Skin Urticarial Reactions and Contact Hypersensitivity. Allergology International 59:2, 105-113
CrossRef47
Fabio Martinon. (2010) Mechanisms of uric acid crystal-mediated autoinflammation. Immunological Reviews 233:1, 218-232
CrossRef48
A A Wanderer. (2009) Rationale for IL-1β-targeted therapy to minimize hypoxic-ischemic encephalopathy. Journal of Perinatology 29:12, 785-787
CrossRef49
Hal M. Hoffman. (2009) Therapy of autoinflammatory syndromes. Journal of Allergy and Clinical Immunology 124:6, 1129-1138
CrossRef50
Leo A. B. Joosten, Mihai G. Netea, Giamila Fantuzzi, Marije I. Koenders, Monique M. A. Helsen, Helmut Sparrer, Christine T. Pham, Jos W. M. van der Meer, Charles A. Dinarello, Wim B. van den Berg. (2009) Inflammatory arthritis in caspase 1 geneâdeficient mice: Contribution of proteinase 3 to caspase 1âindependent production of bioactive interleukin-1β. Arthritis & Rheumatism 60:12, 3651-3662
CrossRef51
Neil Stahl, Allen Radin, Scott Mellis. (2009) Rilonacept-CAPS and Beyond. Annals of the New York Academy of Sciences 1182:1, 124-134
CrossRef52
S.D. Gadola. (2009) Interleukin-1-Zytokine, Inflammasome, NOD-Signalosome und Autoinflammation. Zeitschrift für Rheumatologie 68:9, 712-719
CrossRef53
Christian Schuster, Birger Kränke, Elisabeth Aberer, Emad Arbab, Gunter Sturm, Werner Aberer. (2009) Schnitzler syndrome: response to anakinra in two cases and a review of the literature. International Journal of Dermatology 48:11, 1190-1194
CrossRef54
I. Foeldvari, J. Kümmerle- Deschner. (2009) Klinik der autoinflammatorischen Erkrankungen im Kindesalter. Zeitschrift für Rheumatologie 68:9, 726-732
CrossRef55
E. del Pozo, J. Zapf, A.R. Mackenzie, M. Janner, R. Perrelet, K. Lippuner, P. Mullis. (2009) Experimental arthritis: Effect on growth parameters and total skeletal calcium. Growth Hormone & IGF Research 19:5, 442-446
CrossRef56
Jae J. Chae, Ivona Aksentijevich, Daniel L. Kastner. (2009) Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy. British Journal of Haematology 146:5, 467-478
CrossRef57
Cem Gabay, Gaby Palmer. (2009) Genetics: Mutations in the IL1RN locus lead to autoinflammation. Nature Reviews Rheumatology 5:9, 480-482
CrossRef58
N. Bostanci, G. Emingil, B. Saygan, O. Turkoglu, G. Atilla, M. A. Curtis, G. N. Belibasakis. (2009) Expression and regulation of the NALP3 inflammasome complex in periodontal diseases. Clinical & Experimental Immunology 157:3, 415-422
CrossRef59
Kaoru Geddes, João G. Magalhães, Stephen E. Girardin. (2009) Unleashing the therapeutic potential of NOD-like receptors. Nature Reviews Drug Discovery 8:6, 465-479
CrossRef60
H. J. Lachmann, P. Lowe, S. D. Felix, C. Rordorf, K. Leslie, S. Madhoo, H. Wittkowski, S. Bek, N. Hartmann, S. Bosset, P. N. Hawkins, T. Jung. (2009) In vivo regulation of interleukin 1 in patients with cryopyrin-associated periodic syndromes. Journal of Experimental Medicine 206:5, 1029-1036
CrossRef61
Ida Schoultz, Deepti Verma, Jonas Halfvarsson, Leif Törkvist, Mats Fredrikson, Urban Sjöqvist, Mikael Lördal, Curt Tysk, Maria Lerm, Peter Söderkvist, Johan D Söderholm. (2009) Combined Polymorphisms in Genes Encoding the Inflammasome Components NALP3 and CARD8 Confer Susceptibility to Crohn's Disease in Swedish Men. The American Journal of Gastroenterology 104:5, 1180-1188
CrossRef62
Florence Deknuydt, Gilles Bioley, Danila Valmori, Maha Ayyoub. (2009) IL-1β and IL-2 convert human Treg into TH17 cells. Clinical Immunology 131:2, 298-307
CrossRef63
Hal M. Hoffman, Anna Simon. (2009) Recurrent febrile syndromes—what a rheumatologist needs to know. Nature Reviews Rheumatology 5:5, 249-256
CrossRef64
Fabio Martinon, Annick Mayor, Jürg Tschopp. (2009) The Inflammasomes: Guardians of the Body. Annual Review of Immunology 27:1, 229-265
CrossRef65
Christian R. McIntire, Garabet Yeretssian, Maya Saleh. (2009) Inflammasomes in infection and inflammation. Apoptosis 14:4, 522-535
CrossRef66
Luigi Franchi, Tatjana Eigenbrod, Raúl Muñoz-Planillo, Gabriel Nuñez. (2009) The inflammasome: a caspase-1-activation platform that regulates immune responses and disease pathogenesis. Nature Immunology 10:3, 241-247
CrossRef67
Joao HF Pedra, Suzanne L Cassel, Fayyaz S Sutterwala. (2009) Sensing pathogens and danger signals by the inflammasome. Current Opinion in Immunology 21:1, 10-16
CrossRef68
Evelien J. Bodar, Joost P. H. Drenth, Jos W. M. van der Meer, Anna Simon. (2009) Dysregulation of innate immunity: hereditary periodic fever syndromes. British Journal of Haematology 144:3, 279-302
CrossRef69
Peter C. Taylor. 2009. IL-1 Inhibitors in the Treatment of Rheumatoid Arthritis. , 350-355.
CrossRef70
Alexandra-Chloé Villani, Mathieu Lemire, Geneviève Fortin, Edouard Louis, Mark S Silverberg, Catherine Collette, Nobuyasu Baba, Cécile Libioulle, Jacques Belaiche, Alain Bitton, Daniel Gaudet, Albert Cohen, Diane Langelier, Paul R Fortin, Joan E Wither, Marika Sarfati, Paul Rutgeerts, John D Rioux, Severine Vermeire, Thomas J Hudson, Denis Franchimont. (2009) Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. Nature Genetics 41:1, 71-76
CrossRef71
Luigi Franchi, Neil Warner, Kyle Viani, Gabriel Nuñez. (2009) Function of Nod-like receptors in microbial recognition and host defense. Immunological Reviews 227:1, 106-128
CrossRef72
Leigh D Church, Michael F McDermott. (2009) Rilonacept in cryopyrin-associated periodic syndromes: the beginning of longer-acting interleukin-1 antagonism. Nature Clinical Practice Rheumatology 5:1, 14-15
CrossRef73
M. Granell, A. Urbano-Ispizua, A. Pons, J. I. Arostegui, B. Gel, A. Navarro, S. Jansa, R. Artells, A. Gaya, C. Talarn, F. Fernandez-Aviles, C. Martinez, M. Rovira, E. Carreras, C. Rozman, M. Juan, J. Yague, E. Montserrat, M. Monzo. (2008) Common variants in NLRP2 and NLRP3 genes are strong prognostic factors for the outcome of HLA-identical sibling allogeneic stem cell transplantation. Blood 112:10, 4337-4342
CrossRef74
(2008) Quiz Page November 2008. American Journal of Kidney Diseases 52:5, A47-A49
CrossRef75
J Li, J Yuan. (2008) Caspases in apoptosis and beyond. Oncogene 27:48, 6194-6206
CrossRef76
Bénédicte Neven, Anne-Marie Prieur, Pierre Quartier dit Maire. (2008) Cryopyrinopathies: update on pathogenesis and treatment. Nature Clinical Practice Rheumatology 4:9, 481-489
CrossRef77
Raphaela Goldbach-Mansky, Sharukh D. Shroff, Mildred Wilson, Christopher Snyder, Sara Plehn, Beverly Barham, Tuyet-Hang Pham, Frank Pucino, Robert A. Wesley, Joanne H. Papadopoulos, Steven P. Weinstein, Scott J. Mellis, Daniel L. Kastner. (2008) A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 trap) in patients with familial cold autoinflammatory syndrome. Arthritis & Rheumatism 58:8, 2432-2442
CrossRef78
Elisabeth Eiling, Johann O. Schröder, Wolfgang L. Gross, Inga Kreiselmaier, Ulrich Mrowietz, Thomas Schwarz. (2008) The Schnitzler syndrome: Chronic urticaria and monoclonal gammopathy - an autoinflammatory syndrome?. Journal der Deutschen Dermatologischen Gesellschaft 6:8, 626-631
CrossRef79
Luke AJ O’Neill. (2008) A renaissance of interest in innate immunity: will new treatments for rheumatoid arthritis emerge?. Future Rheumatology 3:3, 203-205
CrossRef80
C. Dostert, V. Petrilli, R. Van Bruggen, C. Steele, B. T. Mossman, J. Tschopp. (2008) Innate Immune Activation Through Nalp3 Inflammasome Sensing of Asbestos and Silica. Science 320:5876, 674-677
CrossRef81
Hal M. Hoffman, Uma Yasothan, Peter Kirkpatrick. (2008) Rilonacept. Nature Reviews Drug Discovery 7:5, 385-386
CrossRef82
Takashi Yamazaki, Junya Masumoto, Kazunaga Agematsu, Nobukuni Sawai, Shinji Kobayashi, Tomonari Shigemura, Kozo Yasui, Kenichi Koike. (2008) Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome. Arthritis & Rheumatism 58:3, 864-868
CrossRef83
Juan I. Aróstegui, Jordi Yagüe. (2008) Enfermedades autoinflamatorias sistémicas hereditarias. Parte II: síndromes periódicos asociados a criopirina, granulomatosis sistémicas pediátricas y síndrome PAPA. Medicina Clínica 130:11, 429-438
CrossRef84
Zubeyde Gunduz, Ismail Dursun, Juan I. Aróstegui, Jordi Yagüe, Ruhan Dusunsel, Hakan M. Poyrazoglu, Metin Kaya Gurgoze, Ali Yıkılmaz. (2008) A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation. Rheumatology International 28:4, 379-383
CrossRef85
Jeroen C.H. van der Hilst, Jos W.M. van der Meer, Joost P.H. Drenth. 2008. Autoinflammatory fever syndromes. , 899-908.
CrossRef86
Eva Dahlén, Karin Barchan, Daniel Herrlander, Patrik Höjman, Marie Karlsson, Lill Ljung, Mats Andersson, Eva Bäckman, Ann-Christin Malmborg Hager, Björn Walse, Leo Joosten, Wim van den Berg. (2008) Development of Interleukin-1 Receptor Antagonist Mutants with Enhanced Antagonistic Activity In Vitro and Improved Therapeutic Efficacy in Collagen-Induced Arthritis. Journal of Immunotoxicology 5:2, 189-199
CrossRef87
Gerben Ferwerda, Matthijs Kramer, Dirk de Jong, Alessandra Piccini, Leo A. Joosten, Isabel DevesaGiner, Stephen E. Girardin, Gosse J. Adema, Jos W. M. van der Meer, Bart-Jan Kullberg, Anna Rubartelli, Mihai G. Netea. (2008) Engagement of NOD2 has a dual effect on proIL-1β mRNA transcription and secretion of bioactive IL-1β. European Journal of Immunology 38:1, 184-191
CrossRef88
LAM Carneiro, JG Magalhaes, I Tattoli, DJ Philpott, LH Travassos. (2008) Nod-like proteins in inflammation and disease. The Journal of Pathology 214:2, 136-148
CrossRef89
John O'shea, Cristina M. Tato, Richard Siegel. 2008. Cytokines and cytokine receptors. , 139-171.
CrossRef90
Olivier Gaide, Hal M Hoffman. (2008) Insight into the inflammasome and caspase-activating mechanisms. Expert Review of Clinical Immunology 4:1, 61-77
CrossRef91
Ryuji Koike, Tetsuo Kubota, Yukichi Hara, Sayaka Ito, Kyoko Suzuki, Kayoko Yanagisawa, Ken Uchibori, Nobuyuki Miyasaka. (2007) A case of Muckle–Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). Modern Rheumatology 17:6, 496-499
CrossRef92
Virginie Pétrilli, Fabio Martinon. (2007) The inflammasome, autoinflammatory diseases, and gout. Joint Bone Spine 74:6, 571-576
CrossRef93
Richard M. Pope, Jürg Tschopp. (2007) The role of interleukin-1 and the inflammasome in gout: Implications for therapy. Arthritis & Rheumatism 56:10, 3183-3188
CrossRef94
Fabio Martinon, Olivier Gaide, Virgine Pétrilli, Annick Mayor, Jürg Tschopp. (2007) NALP Inflammasomes: a central role in innate immunity. Seminars in Immunopathology 29:3, 213-229
CrossRef95
Hal M. Hoffman. (2007) Hereditary immunologic disorders caused by pyrin and cryopyrin. Current Allergy and Asthma Reports 7:5, 323-330
CrossRef96
Michael F. McDermott, Jürg Tschopp. (2007) From inflammasomes to fevers, crystals and hypertension: how basic research explains inflammatory diseases. Trends in Molecular Medicine 13:9, 381-388
CrossRef97
Hideki Watanabe, Olivier Gaide, Virginie Pétrilli, Fabio Martinon, Emmanuel Contassot, Stéphanie Roques, Jean A Kummer, Jürg Tschopp, Lars E French. (2007) Activation of the IL-1β-Processing Inflammasome Is Involved in Contact Hypersensitivity. Journal of Investigative Dermatology 127:8, 1956-1963
CrossRef98
Lachmann, Helen J., Goodman, Hugh J.B., Gilbertson, Janet A.Gallimore, J. Ruth, Sabin, Caroline A., Gillmore, Julian D., Hawkins, Philip N., . (2007) Natural History and Outcome in Systemic AA Amyloidosis. New England Journal of Medicine 356:23, 2361-2371
Full Text99
Ligia I. Craciun, Mario DiGiambattista, Ruth Laub, Michel Goldman, Etienne Dupont. (2007) Apoptosis: A target for potentiation of UV-induced IL-1Ra synthesis by IVIg. Immunology Letters 110:1, 36-41
CrossRef100
Ivona Aksentijevich, Christopher D. Putnam, Elaine F. Remmers, James L. Mueller, Julie Le, Richard D. Kolodner, Zachary Moak, Michael Chuang, Frances Austin, Raphaela Goldbach-Mansky, Hal M. Hoffman, Daniel L. Kastner. (2007) The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis & Rheumatism 56:4, 1273-1285
CrossRef101
Jin, Ying, Mailloux, Christina M., Gowan, Katherine, Riccardi, Sheri L., LaBerge, Greggory, Bennett, Dorothy C., Fain, Pamela R., Spritz, Richard A., . (2007) NALP1 in Vitiligo-Associated Multiple Autoimmune Disease. New England Journal of Medicine 356:12, 1216-1225
Full Text102
Brian D. Thornton, Hal M. Hoffman, Adarsh Bhat, Burl R. Don. (2007) Successful Treatment of Renal Amyloidosis Due to Familial Cold Autoinflammatory Syndrome Using an Interleukin 1 Receptor Antagonist. American Journal of Kidney Diseases 49:3, 477-481
CrossRef103
Tetsuo KUBOTA, Ryuji KOIKE. (2007) Biological and clinical aspects of Muckle-Wells syndrome. Japanese Journal of Clinical Immunology 30:2, 114-122
CrossRef104
Susan M. O'Connell, Grainne M. O'Regan, Turlough Bolger, Hal. M. Hoffman, Andrew Cant, Alan D. Irvine, Rosemarie M. Watson. (2007) Response to IL-1-Receptor Antagonist in a Child with Familial Cold Autoinflammatory Syndrome. Pediatric Dermatology 24:1, 85-89
CrossRef105
F Martinon, J Tschopp. (2007) Inflammatory caspases and inflammasomes: master switches of inflammation. Cell Death and Differentiation 14:1, 10-22
CrossRef106
Saskia H. L. Mandey, Loes M. Kuijk, Joost Frenkel, Hans R. Waterham. (2006) A role for geranylgeranylation in interleukin-1β secretion. Arthritis & Rheumatism 54:11, 3690-3695
CrossRef107
Danielle Burger, Jean-Michel Dayer, Gaby Palmer, Cem Gabay. (2006) Is IL-1 a good therapeutic target in the treatment of arthritis?. Best Practice & Research Clinical Rheumatology 20:5, 879-896
CrossRef108
Goldbach-Mansky, Raphaela, Dailey, Natalie J., Canna, Scott W., Gelabert, Ana, Jones, Janet, Rubin, Benjamin I., Kim, H. Jeffrey, Brewer, Carmen, Zalewski, Christopher, Wiggs, Edythe, Hill, Suvimol, Turner, Maria L., Karp, Barbara I., Aksentijevich, Ivona, Pucino, Frank, Penzak, Scott R., Haverkamp, Margje H., Stein, Leonard, Adams, Barbara S., Moore, Terry L., Fuhlbrigge, Robert C., Shaham, Bracha, Jarvis, James N., O'Neil, Kathleen, Vehe, Richard K., Beitz, Laurie O., Gardner, Gregory, Hannan, William P., Warren, Robert W., Horn, William, Cole, Joe L., Paul, Scott M., Hawkins, Philip N., Pham, Tuyet Hang, Snyder, Christopher, Wesley, Robert A., Hoffmann, Steven C., Holland, Steven M., Butman, John A., Kastner, Daniel L., . (2006) Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition. New England Journal of Medicine 355:6, 581-592
Full Text109
Matthijs Kramer, Leo A Joosten, Carl G Figdor, Wim B van den Berg, Timothy RDJ Radstake, Gosse J Adema. (2006) Closing in on Toll-like receptors and NOD-LRR proteins in inflammatory disorders. Future Rheumatology 1:4, 465-479
CrossRef110
Etienne Meylan, Jürg Tschopp, Michael Karin. (2006) Intracellular pattern recognition receptors in the host response. Nature 442:7098, 39-44
CrossRef111
Leigh D. Church, Sarah M. Churchman, Philip N. Hawkins, Michael F. McDermott. (2006) Hereditary auto-inflammatory disorders and biologics. Springer Seminars in Immunopathology 27:4, 494-508
CrossRef112
Tristan Mirault, David Launay, Laurence Cuisset, Eric Hachulla, Marc Lambert, Viviane Queyrel, Thomas Quemeneur, Sandrine Morell-Dubois, Pierre-Yves Hatron. (2006) Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. Arthritis & Rheumatism 54:5, 1697-1700
CrossRef113
Fabio Martinon, Virginie Pétrilli, Annick Mayor, Aubry Tardivel, Jürg Tschopp. (2006) Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 440:7081, 237-241
CrossRef114
Jenny P.-Y. Ting, Daniel L. Kastner, Hal M. Hoffman. (2006) CATERPILLERs, pyrin and hereditary immunological disorders. Nature Reviews Immunology 6:3, 183-195
CrossRef115
Fayyaz S. Sutterwala, Yasunori Ogura, Marian Szczepanik, Maria Lara-Tejero, G. Scott Lichtenberger, Ethan P. Grant, John Bertin, Anthony J. Coyle, Jorge E. Galán, Philip W. Askenase, Richard A. Flavell. (2006) Critical Role for NALP3/CIAS1/Cryopyrin in Innate and Adaptive Immunity through Its Regulation of Caspase-1. Immunity 24:3, 317-327
CrossRef116
Michael Karin, Toby Lawrence, Victor Nizet. (2006) Innate Immunity Gone Awry: Linking Microbial Infections to Chronic Inflammation and Cancer. Cell 124:4, 823-835
CrossRef117
Jonathan Samuels, Seza Ozen. (2006) Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Current Opinion in Rheumatology 18:1, 108-117
CrossRef118
B. FADEEL, S. ORRENIUS. (2005) Apoptosis: a basic biological phenomenon with wide-ranging implications in human disease. Journal of Internal Medicine 258:6, 479-517
CrossRef119
F. Caux, L. Maksimovic, J. Stirnemann, L. Cuisset, S. Rouaghe, E. Letellier, O. Fain, L. Laroche. (2005) C30 - Efficacité de l’anakinra et nouvelle mutation du gène CIAS1 dans le syndrome de Muckle-Wells : 3 cas. Annales de Dermatologie et de Vénéréologie 132, 20
CrossRef120
Silvia Stojanov, Daniel L Kastner. (2005) Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Current Opinion in Rheumatology 17:5, 586-599
CrossRef121
Avril A. Fitzgerald, Sharon A. LeClercq, Alexander Yan, Joanne E. Homik, Charles A. Dinarello. (2005) Rapid responses to anakinra in patients with refractory adult-onset Still's disease. Arthritis & Rheumatism 52:6, 1794-1803
CrossRef122
Marjan M van Duist, Mario Albrecht, Marta Podswiadek, Daniela Giachino, Thomas Lengauer, Leonardo Punzi, Mario De Marchi. (2005) A new CARD15 mutation in Blau syndrome. European Journal of Human Genetics 13:6, 742-747
CrossRef123
Jenny P-Y. Ting, Beckley K. Davis. (2005) CATERPILLER: A Novel Gene Family Important in Immunity, Cell Death, and Diseases. Annual Review of Immunology 23:1, 387-414
CrossRef124
Daniel J. Lovell, Suzanne L. Bowyer, Alan M. Solinger. (2005) Interleukin-1 blockade by anakinra improves clinical symptoms in patients with neonatal-onset multisystem inflammatory disease. Arthritis & Rheumatism 52:4, 1283-1286
CrossRef125
Ligia I. Craciun, Mario DiGiambattista, Liliane Schandené, Ruth Laub, Michel Goldman, Etienne Dupont. (2005) Anti-inflammatory effects of UV-irradiated lymphocytes: induction of IL-1Ra upon phagocytosis by monocyte/macrophages. Clinical Immunology 114:3, 320-326
CrossRef126
Chikao Miki, Yasuhiro Inoue, Yuji Toiyama, Eiki Ojima, Minako Kobayashi, Tsuyoshi Hatada, Toshimitsu Araki, Masato Kusunoki. (2005) Deficiency in systemic interleukin-1 receptor antagonist production as an operative risk factor in malnourished elderly patients with colorectal carcinoma. Critical Care Medicine 33:1, 177-180
CrossRef127
Juan I. Ar
stegui, Anna Aldea, Consuelo Modesto, Maria Jes
CrossRef128
Hal M Hoffman, Sanna Rosengren, David L Boyle, Jae Y Cho, Jyothi Nayar, James L Mueller, Justin P Anderson, Alan A Wanderer, Gary S Firestein. (2004) Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. The Lancet 364:9447, 1779-1785
CrossRef129
Riny Janssen, Els Verhard, Arjan Lankester, Rebecca ten Cate, Jaap T. van Dissel. (2004) Enhanced interleukin-1? and interleukin-18 release in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis & Rheumatism 50:10, 3329-3333
CrossRef130
Nora G Singer, Lisabeth V Scalzi. (2004) Remittive agents in pediatric rheumatology. Current Opinion in Rheumatology 16:5, 571-576
CrossRef131
Philip N. Hawkins, Alison Bybee, Ebun Aganna, Michael F. McDermott. (2004) Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease. Arthritis & Rheumatism 50:8, 2708-2709
CrossRef132
R.L. Shpall, E.W.B. Jeffes, H.M. Hoffman. (2004) A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation. British Journal of Dermatology 150:5, 1029-1031
CrossRef133
Fabio Martinon, Jürg Tschopp. (2004) Inflammatory Caspases. Cell 117:5, 561-574
CrossRef134
Charles A. Dinarello. (2004) Unraveling the NALP-3/IL-1β Inflammasome. Immunity 20:3, 243-244
CrossRef135
Laetitia Agostini, Fabio Martinon, Kimberly Burns, Michael F. McDermott, Philip N. Hawkins, Jürg Tschopp. (2004) NALP3 Forms an IL-1β-Processing Inflammasome with Increased Activity in Muckle-Wells Autoinflammatory Disorder. Immunity 20:3, 319-325
CrossRef136
Philip N. Hawkins, Helen J. Lachmann, Ebun Aganna, Michael F. McDermott. (2004) Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis & Rheumatism 50:2, 607-612
CrossRef137
Gideon M Hirschfield. (2004) Amyloidosis: a clinico-pathophysiological synopsis. Seminars in Cell & Developmental Biology 15:1, 39-44
CrossRef138
Isabelle Touitou, C??cile Notarnicola, Sylvie Grandemange. (2004) Identifying Mutations in Autoinflammatory Diseases. American Journal of PharmacoGenomics 4:2, 109-118
CrossRef
