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Original Article

A Chronic, Infantile, Neurological, Cutaneous and Articular (CINCA) Syndrome. A Specific Entity Analysed in 30 Patients

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Pages 57-68 | Published online: 12 Jul 2009

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Read on this site (14)

Megumu K. Saito. (2018) Disease modeling of immunological disorders using induced pluripotent stem cells. Immunological Medicine 41:2, pages 68-74.
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Isabelle Koné-Paut & Caroline Galeotti. (2015) Current treatment recommendations and considerations for cryopyrin-associated periodic syndrome. Expert Review of Clinical Immunology 11:10, pages 1083-1092.
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Guillaume Sarrabay, Sylvie Grandemange & Isabelle Touitou. (2015) Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts. Expert Review of Clinical Immunology 11:7, pages 827-835.
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Isabelle Koné-Paut & Caroline Galeotti. (2014) Anakinra for cryopyrin-associated periodic syndrome. Expert Review of Clinical Immunology 10:1, pages 7-18.
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Caroline Galeotti & Isabelle Koné-Paut. (2013) Current options for the treatment of cryopyrin-associated periodic syndromes. Expert Opinion on Orphan Drugs 1:8, pages 589-597.
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Shumpei Yokota, Ryuta Nishikomori, Hidetoshi Takada, Masako Kikuchi, Tomo Nozawa, Taichi Kanetaka, Toshitaka Kizawa, Takako Miyamae, Masaaki Mori, Toshio Heike, Toshiro Hara & Tomoyuki Imagawa. (2013) Guidance on the use of canakinumab in patients with cryopyrin-associated periodic syndrome in Japan. Modern Rheumatology 23:3, pages 425-429.
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Ahmad Bakir Tarabishy, Amy G. Hise & Elias I. Traboulsi. (2012) Ocular manifestations of the autoinflammatory syndromes. Ophthalmic Genetics 33:4, pages 179-186.
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J E H M Bates, I A Bruce, L Henderson, C Melling & K M J Green. (2012) Cochlear implantation in a child with CINCA syndrome who also has wide vestibular aqueducts. Cochlear Implants International 13:3, pages 173-176.
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Assen Koitschev, Katharina Gramlich, Sandra Hansmann, Susanne Benseler, Stefan K. Plontke, Christiane Koitschev, Ina Koetter & Jasmin B. Kuemmerle-Deschner. (2012) Progressive familial hearing loss in Muckle-Wells syndrome. Acta Oto-Laryngologica 132:7, pages 756-762.
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Shruti P. Wilson & Suzanne L. Cassel. (2010) Inflammasome-Mediated Autoinflammatory Disorders. Postgraduate Medicine 122:5, pages 125-133.
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Justin Gillespie, Rebeccah Mathews & Michael F McDermott. (2010) Rilonacept in the management of cryopyrin-associated periodic syndromes (CAPS). Journal of Inflammation Research 3, pages 1-8.
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Leigh D Church, Sinisa Savic & Michael F McDermott. (2008) Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): focus on rilonacept (IL-1 Trap). Biologics: Targets and Therapy 2:4, pages 733-742.
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O. Kaipiainen‐Seppänen, K. Punnonen, M. E. van Gijn & T. Mononen. (2008) Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra. Scandinavian Journal of Rheumatology 37:1, pages 75-76.
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J. B. Kümmerle-Deschner. (2016) Autoinflammatorische SyndromeAutoinflammatory syndromes. Zeitschrift für Rheumatologie 75:6, pages 542-555.
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Amanda K. Ombrello & Ivona Aksentijevich. 2015. Amyloid and Related Disorders. Amyloid and Related Disorders 31 53 .
Yan Paccaud, Gerald Berthet, Annette Von Scheven-Gête, Bernard Vaudaux, Yvan Mivelaz, Michael Hofer & Matthias Roth-Kleiner. (2014) Neonatal treatment of CINCA syndrome. Pediatric Rheumatology 12:1.
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M. Ameline, C. Fleuret & P. Plantin. (2014) Urticarias en el niño. EMC - Pediatría 49:4, pages 1-10.
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R. A. G. Russo & P. A. Brogan. (2014) Monogenic autoinflammatory diseases. Rheumatology 53:11, pages 1927-1939.
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T. Kallinich. 2014. Pädiatrische Rheumatologie. Pädiatrische Rheumatologie 433 463 .
Marco Gattorno. 2014. Skin Manifestations in Rheumatic Disease. Skin Manifestations in Rheumatic Disease 363 371 .
Kerem Polat, İsmail Önder Uysal, Soner Şenel, Cemil Güler, Kasım Durmuş & Suphi Müderris. (2013) Evaluation of hearing in patients with familial Mediterranean fever. European Archives of Oto-Rhino-Laryngology 270:11, pages 2871-2874.
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Shivani V. Tripathi & Kieron S. Leslie. (2013) Autoinflammatory Diseases in Dermatology. Dermatologic Clinics 31:3, pages 387-404.
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Michael C. Heymann & Angela Rösen-Wolff. (2013) Contribution of the inflammasomes to autoinflammatory diseases and recent mouse models as research tools. Clinical Immunology 147:3, pages 175-184.
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U. Neudorf, E. Lainka, T. Kallinich, D. Holzinger, J. Roth, D. Föll & T. Niehues. (2013) Genetische FiebersyndromeGenetic fever syndromes. Zeitschrift für Rheumatologie 72:4, pages 332-338.
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İsmail Önder Uysal, Levent Gürbüzler, Ali Kaya, Sema Koç, Sefa Gültürk, Ömer Cevit & Suphi Müderris. (2012) Evaluation of cochlear function using transient evoked otoacoustic emission in children with Familial Mediterranean Fever. International Journal of Pediatric Otorhinolaryngology 76:3, pages 379-381.
Crossref
Soodabeh Fazeli Dehkordy, Asghar Aghamohammadi, Hans D. Ochs & Nima Rezaei. (2011) Primary Immunodeficiency Diseases Associated with Neurologic Manifestations. Journal of Clinical Immunology 32:1, pages 1-24.
Crossref
R Goldbach-Mansky. (2012) Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1. Clinical and Experimental Immunology 167:3, pages 391-404.
Crossref
Marco Gattorno. 2012. Textbook of Clinical Pediatrics. Textbook of Clinical Pediatrics 1701 1711 .
Amanda K. Ombrello & Ivona Aksentijevich. 2012. Amyloid and Related Disorders. Amyloid and Related Disorders 31 51 .
Matthew Stenerson, Kevin Dufendach, Ivona Aksentijevich, Jillian Brady, Jared Austin & Ann M. Reed. (2011) The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. Arthritis & Rheumatism 63:12, pages 4018-4022.
Crossref
H J Lachmann. (2011) Clinical Immunology Review Series: An approach to the patient with a periodic fever syndrome. Clinical and Experimental Immunology 165:3, pages 301-309.
Crossref
Neda Ahmadi, Carmen C. Brewer, Christopher Zalewski, Kelly A. King, John A. Butman, Nicole Plass, Cailin Henderson, Raphaela Goldbach‐Mansky & H. Jeffrey Kim. (2011) Cryopyrin‐Associated Periodic Syndromes. Otolaryngology–Head and Neck Surgery 145:2, pages 295-302.
Crossref
Raphaela Goldbach-Mansky. (2011) Current Status of Understanding the Pathogenesis and Management of Patients With NOMID/CINCA. Current Rheumatology Reports 13:2, pages 123-131.
Crossref
Jasmin B. Kuemmerle-Deschner, Pascal N. Tyrrell, Ina Koetter, Helmut Wittkowski, Anja Bialkowski, Nicolai Tzaribachev, Peter Lohse, Assen Koitchev, Christoph Deuter, Dirk Foell & Susanne M. Benseler. (2011) Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. Arthritis & Rheumatism 63:3, pages 840-849.
Crossref
Megumu K. SAITO. (2011) CAPS : Cryopyrin-associated periodic syndromeCAPS:クライオパイリン関連周期熱症候群. Japanese Journal of Clinical Immunology 34:5, pages 369-377.
Crossref
Megumu K SAITO. (2011) Inflammasomes and related diseasesインフラマソームとその関連疾患の最近の知見. Japanese Journal of Clinical Immunology 34:1, pages 20-28.
Crossref
Juan I. Aróstegui. (2011) Enfermedades autoinflamatorias sistémicas hereditarias. Reumatología Clínica 7:1, pages 45-50.
Crossref
Juan I. Aróstegui. (2011) Hereditary systemic autoinflammatory diseases. Reumatología Clínica (English Edition) 7:1, pages 45-50.
Crossref
Juan I. Aróstegui. (2011) Etiopatogenia de los síndromes asociados a criopirina: genética, bases moleculares y el inflamasoma. Medicina Clínica 136, pages 22-28.
Crossref
Consuelo Modesto. (2011) Síndrome CINCA/NOMID. Medicina Clínica 136, pages 10-15.
Crossref
Karyl Barron, Balu Athreya & Daniel Kastner. 2011. Textbook of Pediatric Rheumatology. Textbook of Pediatric Rheumatology 642 660 .
Peter W. Kim, Ivona Aksentijevich, Nona T. Colburn & Daniel L. Kastner. 2011. Rheumatology. Rheumatology 1637 1657.e5 .
Geraldina LionettiSivia LapidusRaphaela Goldbach-ManskyJennifer Frankovich. (2010) Autoinflammatory Diseases in the Neonate: Mimickers of Neonatal Infections. NeoReviews 11:10, pages e566-e577.
Crossref
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 underlying mendelian inherited diseases . Arthritis & Rheumatism 62:4, pages 1158-1166.
Crossref
A. D. Irvine & J. E. Mellerio. 2010. Rook's Textbook of Dermatology. Rook's Textbook of Dermatology 1 97 .
Antonio Torrelo, Sapna Patel, Isabel Colmenero, Dolores Gurbindo, Francisco Lendínez, Angela Hernández, Juan Carlos López-Robledillo, Ali Dadban, Luis Requena & Amy S. Paller. (2010) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. Journal of the American Academy of Dermatology 62:3, pages 489-495.
Crossref
A. Carzoli, T. Maalouf, O. Henckes, I. Lemelle, J.-L. George & K. Angioi. (2010) Une cause rare d’œdème papillaire : le CINCA syndrome. Les cas de jumeaux homozygotes. Journal Français d'Ophtalmologie 33:1, pages 36-39.
Crossref
A.P. Brezin & P.R. Rothschild. 2010. Les Uvéites. Les Uvéites 525 529 .
Donato Rigante, Achille Stabile, Angelo Minnella, Laura Avallone, Lucia Ziccardi, Giulia Bersani, Giovanna Stifano, Adele Compagnone & Benedetto Falsini. (2009) Post-inflammatory retinal dystrophy in CINCA syndrome. Rheumatology International 30:3, pages 389-393.
Crossref
John F. Bastian & Michelle Hernandez. 2010. Molecular Pathology of Hematolymphoid Diseases. Molecular Pathology of Hematolymphoid Diseases 499 509 .
Raphaela Goldbach-Mansky. (2009) Blocking Interleukin-1 in Rheumatic Diseases. Annals of the New York Academy of Sciences 1182:1, pages 111-123.
Crossref
Mercedes Serrano, Aida Ormazábal, Jordi Antón, Juan I. Aróstegui & Àngels García-Cazorla. (2009) Cerebrospinal Fluid Neopterin and Cryopyrin-Associated Periodic Syndrome. Pediatric Neurology 41:6, pages 448-450.
Crossref
Raphaela Goldbach-Mansky & Daniel L. Kastner. (2009) Autoinflammation: The prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. Journal of Allergy and Clinical Immunology 124:6, pages 1141-1149.
Crossref
B. Manger, M. Gaubitz & H. Michels. (2009) Empfehlungen zur Therapie mit Interleukin-1β-blockierenden WirkstoffenRecommendations on therapy using interleukin-1β-blocking agents. Zeitschrift für Rheumatologie 68:9, pages 766-771.
Crossref
I. Foeldvari & J. Kümmerle- Deschner. (2009) Klinik der autoinflammatorischen Erkrankungen im KindesalterAutoinflammatory diseases in childhood. Zeitschrift für Rheumatologie 68:9, pages 726-732.
Crossref
Marco Gattorno, Roberta Caorsi, Antonella Meini, Marco Cattalini, Silvia Federici, Francesco Zulian, Elisabetta Cortis, Giuseppina Calcagno, Alberto Tommasini, Rita Consolini, Gabriele Simonini, Maria Antonietta Pelagatti, Maurizia Baldi, Isabella Ceccherini, Alessandro Plebani, Joost Frenkel, Maria Pia Sormani & Alberto Martini. (2009) Differentiating PFAPA Syndrome From Monogenic Periodic Fevers. Pediatrics 124:4, pages e721-e728.
Crossref
Sreelatha Reddy, Shuang Jia, Rhonda Geoffrey, Rachel Lorier, Mariko Suchi, Ulrich Broeckel, Martin J. Hessner & James Verbsky. (2009) An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus . New England Journal of Medicine 360:23, pages 2438-2444.
Crossref
GINA A MONTEALEGRE SANCHEZ & PHILIP J HASHKES. (2009) Neurological manifestations of the Mendelian-inherited autoinflammatory syndromes. Developmental Medicine & Child Neurology 51:6, pages 420-428.
Crossref
Marco Gattorno, Alberto Martini, Raphaela Goldbach-Mansky, Pamela Aubert & Polly J. Ferguson. 2010. A Clinician's Pearls and Myths in Rheumatology. A Clinician's Pearls and Myths in Rheumatology 33 49 .
J P Anderson, J L Mueller, A Misaghi, S Anderson, M Sivagnanam, R D Kolodner & H M Hoffman. (2008) Initial description of the human NLRP3 promoter. Genes & Immunity 9:8, pages 721-726.
Crossref
Bénédicte Neven, Anne-Marie Prieur & Pierre Quartier dit Maire. (2008) Cryopyrinopathies: update on pathogenesis and treatment. Nature Clinical Practice Rheumatology 4:9, pages 481-489.
Crossref
S. Aboín-González, I. Aldanondo-Fernández de la Mora, C.R. García-Acebes, R. Carrillo-Gijón, A. Harto-Castaño & P. Jaén-Olasolo. (2008) Síndrome CINCA: presentación de un caso con exacerbación febril de sus lesiones cutáneas. Actas Dermo-Sifiliográficas 99:6, pages 481-484.
Crossref
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, pages 2432-2442.
Crossref
Rachel L. Glaser & Raphaela Goldbach-Mansky. (2008) The spectrum of monogenic autoinflammatory syndromes: Understanding disease mechanisms and use of targeted therapies. Current Allergy and Asthma Reports 8:4, pages 288-298.
Crossref
M. Gattorno, M. P. Sormani, A. D'Osualdo, M. A. Pelagatti, F. Caroli, S. Federici, M. Cecconi, N. Solari, A. Meini, F. Zulian, L. Obici, L. Breda, S. Martino, A. Tommasini, G. Bossi, A. Govers, I. Touitou, P. Woo, J. Frenkel, I. Koné-Paut, M. Baldi, I. Ceccherini & A. Martini. (2008) A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis & Rheumatism 58:6, pages 1823-1832.
Crossref
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, pages 429-438.
Crossref
Megumu Saito, Ryuta Nishikomori, Naotomo KambeAkihiro FujisawaHideaki TanizakiKyoko TakeichiTomoyuki ImagawaTomoko IeharaHidetoshi TakadaTadashi MatsubayashiHiroshi TanakaHisashi KawashimaKiyoshi Kawakami, Shinji Kagami, Ikuo Okafuji, Takakazu Yoshioka, Souichi Adachi, Toshio Heike, Yoshiki MiyachiTatsutoshi Nakahata. (2008) Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood 111:4, pages 2132-2141.
Crossref
Zubeyde Gunduz, Ismail Dursun, Juan I. Aróstegui, Jordi Yagüe, Ruhan Dusunsel, Hakan M. Poyrazoglu, Metin Kaya Gurgoze & Ali Yıkılmaz. (2007) A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation. Rheumatology International 28:4, pages 379-383.
Crossref
Jeanette M Wilmanski, Tanja Petnicki-Ocwieja & Koichi S Kobayashi. (2008) NLR proteins: integral members of innate immunity and mediators of inflammatory diseases. Journal of Leukocyte Biology 83:1, pages 13-30.
Crossref
S. Aboín-González, I. Aldanondo-Fernández de la Mora, C.R. García-Acebes, R. Carrillo-Gijón, A. Harto-Castaño & P. Jaén-Olasolo. (2008) Exacerbation of Skin Lesions During Fever in a Patient With Chronic Infantile Neurologic Cutaneous Articular Syndrome. Actas Dermo-Sifiliográficas (English Edition) 99:6, pages 481-484.
Crossref
Stefan Berg & Anders Fasth. 2008. Primary Immunodeficiency Diseases. Primary Immunodeficiency Diseases 215 233 .
John G. Ryan & Daniel L. Kastner. 2008. Primer on the Rheumatic Diseases. Primer on the Rheumatic Diseases 460 469 .
John G. Ryan & Daniel L. Kastner. 2008. Primer on the Rheumatic Diseases. Primer on the Rheumatic Diseases 460 469 .
Virginie Pétrilli & Fabio Martinon. (2007) L'inflammasome, les maladies auto-inflammatoires et la goutte. Revue du Rhumatisme 74:12, pages 1240-1246.
Crossref
Katia Stankovic & Gilles Grateau. (2007) Auto inflammatory syndromes: Diagnosis and treatment. Joint Bone Spine 74:6, pages 544-550.
Crossref
Virginie Pétrilli & Fabio Martinon. (2007) The inflammasome, autoinflammatory diseases, and gout. Joint Bone Spine 74:6, pages 571-576.
Crossref
Katia Stankovic & Gilles Grateau. (2007) Rhumatismes auto-inflammatoires: stratégie diagnostique et traitement. Revue du Rhumatisme 74:10-11, pages 945-952.
Crossref
Nobuo KANAZAWA & Fukumi FURUKAWA. (2007) Autoinflammatory syndromes with a dermatological perspective. The Journal of Dermatology 34:9, pages 601-618.
Crossref
Isabelle Touitou & Isabelle Koné-Paut. (2007) Fièvres récurrentes héréditaires: diagnostic et traitement. Revue du Rhumatisme 74:8, pages 783-789.
Crossref
Hal M. Hoffman. (2007) Hereditary immunologic disorders caused by pyrin and cryopyrin. Current Allergy and Asthma Reports 7:5, pages 323-330.
Crossref
Christine F. Lauro, Raphaela Goldbach-Mansky, Margaret Schmidt & Zenaide M. N. Quezado. (2007) The Anesthetic Management of Children with Neonatal-Onset Multi-System Inflammatory Disease. Anesthesia & Analgesia 105:2, pages 351-357.
Crossref
Shai Padeh & Yakov Berkun. (2007) Auto-inflammatory Fever Syndromes. Rheumatic Disease Clinics of North America 33:3, pages 585-623.
Crossref
Akihiro FujisawaNaotomo KambeMegumu SaitoRyuta NishikomoriHideaki TanizakiNobuo KanazawaSouichi AdachiToshio HeikeJunji SagaraTakashi Suda, Tatsutoshi NakahataYoshiki Miyachi. (2006) Disease-associated mutations in CIAS1 induce cathepsin B–dependent rapid cell death of human THP-1 monocytic cells. Blood 109:7, pages 2903-2911.
Crossref
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, pages 1273-1285.
Crossref
Consuelo Modesto, Juan Ignacio Aróstegui, Jordi Yagüe & Cristina Arnal. (2007) ¿Qué es lo que hoy debo saber sobre los síndromes autoinflamatorios?. Seminarios de la Fundación Española de Reumatología 8:1, pages 34-44.
Crossref
José Luis Callejas, Javier Oliver, Javier Martín & Norberto Ortego. (2006) Anakinra in mutation-negative CINCA syndrome. Clinical Rheumatology 26:4, pages 576-577.
Crossref
Hiroshi SUGIURA & Tadashi MATSUBAYASHI. (2007) Clinical features of CINCA syndrome: effects and problems of IL-1Ra.CINCA症候群の臨床像とIL-1Raの効果・問題点. Japanese Journal of Clinical Immunology 30:2, pages 108-113.
Crossref
V. Hentgen & G. Grateau. (2007) Fiebres recurrentes hereditarias. EMC - Tratado de Medicina 11:3, pages 1-9.
Crossref
V. Hentgen & G. Grateau. (2007) Fièvres récurrentes héréditaires. EMC - Traité de médecine AKOS 2:2, pages 1-9.
Crossref
Ralph S. Lachman. 2007. Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias. Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias 404 417 .
G. Horneff & V. Wahn. 2007. Therapie der Krankheiten im Kindes- und Jugendalter. Therapie der Krankheiten im Kindes- und Jugendalter 494 499 .
T. Kallinich & R. Keitzer. 2007. Pädiatrische Rheumatologie. Pädiatrische Rheumatologie 407 434 .
Olivier Dereure. 2007. Manifestations dermatologiques des connectivites, vasculites et affections systémiques apparentées. Manifestations dermatologiques des connectivites, vasculites et affections systémiques apparentées 152 159 .
C. Huemer & M. Huemer. (2006) Genetische FiebersyndromePeriodic fever syndromes. Zeitschrift für Rheumatologie 65:7, pages 595-603.
Crossref
Raphaela Goldbach-Mansky, Natalie J. Dailey, Scott W. Canna, Ana Gelabert, Janet Jones, Benjamin I. Rubin, H. Jeffrey Kim, Carmen Brewer, Christopher Zalewski, Edythe Wiggs, Suvimol Hill, Maria L. Turner, Barbara I. Karp, Ivona Aksentijevich, Frank Pucino, Scott R. Penzak, Margje H. Haverkamp, Leonard Stein, Barbara S. Adams, Terry L. Moore, Robert C. Fuhlbrigge, Bracha Shaham, James N. Jarvis, Kathleen O'Neil, Richard K. Vehe, Laurie O. Beitz, Gregory Gardner, William P. Hannan, Robert W. Warren, William Horn, Joe L. Cole, Scott M. Paul, Philip N. Hawkins, Tuyet Hang Pham, Christopher Snyder, Robert A. Wesley, Steven C. Hoffmann, Steven M. Holland, John A. Butman & Daniel L. Kastner. (2006) Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition. New England Journal of Medicine 355:6, pages 581-592.
Crossref
Michaël Hofer, Nizar Mahlaoui & Anne-Marie Prieur. (2006) A child with a systemic febrile illness – differential diagnosis and management. Best Practice & Research Clinical Rheumatology 20:4, pages 627-640.
Crossref
Tomoyo Matsubara, Masanari Hasegawa, Masahiro Shiraishi, Hal M. Hoffman, Takashi Ichiyama, Takeo Tanaka, Haruo Ueda, Tokuhiro Ishihara & Susumu Furukawa. (2006) A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents. Arthritis & Rheumatism 54:7, pages 2314-2320.
Crossref
C. Boschan, O. Witt, P. Lohse, I. Foeldvari, H. Zappel & L. Schweigerer. (2006) Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of theCIAS1 gene and response to interleukin-1 receptor antagonist treatment. American Journal of Medical Genetics Part A 140A:8, pages 883-886.
Crossref
D. Rigante, V. Ansuini, M. Caldarelli, B. Bertoni, I. La Torraca & A. Stabile. (2006) Hydrocephalus in CINCA syndrome treated with anakinra. Child's Nervous System 22:4, pages 334-337.
Crossref
Fatos Onen. (2005) Familial Mediterranean fever. Rheumatology International 26:6, pages 489-496.
Crossref
Jenny P.-Y. Ting, Daniel L. Kastner & Hal M. Hoffman. (2006) CATERPILLERs, pyrin and hereditary immunological disorders. Nature Reviews Immunology 6:3, pages 183-195.
Crossref
Sharon E. Jacob, Edward W. Cowen, Raphaela Goldbach-Mansky, Daniel Kastner & Maria L. Turner. (2006) A recurrent rash with fever and arthropathy. Journal of the American Academy of Dermatology 54:2, pages 318-321.
Crossref
S. Brydges & D. L. Kastner. 2006. Current Concepts in Autoimmunity and Chronic Inflammation. Current Concepts in Autoimmunity and Chronic Inflammation 127 160 .
Megumu Saito, Akihiro Fujisawa, Ryuta Nishikomori, Naotomo Kambe, Mami Nakata-Hizume, Momoko Yoshimoto, Katsuyuki Ohmori, Ikuo Okafuji, Takakazu Yoshioka, Takashi Kusunoki, Yoshiki Miyachi, Toshio Heike & Tatsutoshi Nakahata. (2005) Somatic mosaicism ofCIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis & Rheumatism 52:11, pages 3579-3585.
Crossref
. (2005) Periodic fever, rash and arthropathy in a child. Annals of Saudi Medicine 25:5, pages 441-442.
Crossref
Kerith E. Spicknall, Matthew J. Zirwas & Joseph C. EnglishIIIIII. (2005) Clubbing: An update on diagnosis, differential diagnosis, pathophysiology, and clinical relevance. Journal of the American Academy of Dermatology 52:6, pages 1020-1028.
Crossref
Gilles Grateau. (2005) Fièvres héréditaires intermittentes. Bulletin de l'Académie Nationale de Médecine 189:6, pages 1235-1248.
Crossref
Christophe Leys, Catherine Eschard, Jacques Motte, Anne-Marie Prieur, Bernard Kalis & Philippe Bernard. (2005) Chronic Infantile Neurological, Cutaneous, and Articular Syndrome with Severe Early Articular Manifestations. Pediatric Dermatology 22:3, pages 222-226.
Crossref
Shai Padeh. (2005) Periodic Fever Syndromes. Pediatric Clinics of North America 52:2, pages 577-609.
Crossref
Manfred Zierhut, Hartmut Michels, Nicole St??biger, Dorothea Besch, Christoph Deuter & Arnd Heiligenhaus. (2005) Uveitis in Children. International Ophthalmology Clinics 45:2, pages 135-156.
Crossref
Bénédicte Neven, Anne-Marie Prieur & Ross E. Petty. 2005. Textbook of Pediatric Rheumatology. Textbook of Pediatric Rheumatology 671 675 .
Juan I. Aróstegui, Anna Aldea, Consuelo Modesto, Maria Jesús Rua, Federico Argüelles, Maria Antonia González-Enseñat, Eduardo Ramos, Josefa Rius, Susana Plaza, Jordi Vives & Jordi Yagüe. (2004) Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene . Arthritis & Rheumatism 50:12, pages 4045-4050.
Crossref
Gilles Grateau, Brigitte Granel, Véronique Hentgen, Catherine Dodé, Laurence Cuisset & Marc Delpech. (2004) Fièvres intermittentes héréditaires. La Presse Médicale 33:17, pages 1195-1206.
Crossref
Gönke Pörksen, Peter Lohse, Angela Rösen-Wolff, Stefan Heyden, Theresa Förster, Jörg Wendisch, Georg Heubner, Horst von Bernuth, Svea Sallmann, Manfred Gahr & Joachim Roesler. (2004) Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients - expanding phenotype of CIAS1 related autoinflammatory syndrome . European Journal of Haematology 73:2, pages 123-127.
Crossref
Justin P. Anderson, James L. Mueller, Sanna Rosengren, David L. Boyle, Philip Schaner, Steven B. Cannon, Carl S. Goodyear & Hal M. Hoffman. (2004) Structural, expression, and evolutionary analysis of mouse CIAS1. Gene 338:1, pages 25-34.
Crossref
Silvia Stojanov, Michael Weiss, Peter Lohse & Bernd H. Belohradsky. (2004) A Novel CIAS1 Mutation and Plasma/Cerebrospinal Fluid Cytokine Profile in a German Patient With Neonatal-Onset Multisystem Inflammatory Disease Responsive to Methotrexate Therapy . Pediatrics 114:1, pages e124-e127.
Crossref
B Granel. (2004) Urticaire et maladies systémiques. Revue Française d'Allergologie et d'Immunologie Clinique 44:3, pages 297-303.
Crossref
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, pages 607-612.
Crossref
G. Horneff & V. Wahn. 2004. Therapie der Krankheiten im Kindes- und Jugendalter. Therapie der Krankheiten im Kindes- und Jugendalter 481 485 .
J. I. Harper & R. C. Trembath. 2004. Rook's Textbook of Dermatology. Rook's Textbook of Dermatology 383 468 .
Gilles Grateau. (2003) Musculoskeletal disorders in secondary amyloidosis and hereditary fevers. Best Practice & Research Clinical Rheumatology 17:6, pages 929-944.
Crossref
Angela Rösen-Wolff, Jürgen Quietzsch, Heinz Schröder, Romy Lehmann, Manfred Gahr & Joachim Roesler. (2003) Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment. European Journal of Haematology 71:3, pages 215-214.
Crossref
Keith M. Hull, Nitza Shoham, Jae Jin Chae, Ivona Aksentijevich & Daniel L. Kastner. (2003) The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Current Opinion in Rheumatology 15:1, pages 61-69.
Crossref
Pierre Quartier & Anne- Marie Prieur. (2002) Immunodeficiency and genetic conditions that cause arthritis in childhood. Current Rheumatology Reports 4:6, pages 483-493.
Crossref
Ivona Aksentijevich, Miroslawa Nowak, Mustapha Mallah, Jae Jin Chae, Wendy T. Watford, Sigrun R. Hofmann, Leonard Stein, Ricardo Russo, Donald Goldsmith, Peter Dent, Helene F. Rosenberg, Frances Austin, Elaine F. Remmers, James E. BalowJr.Jr., Sergio Rosenzweig, Hirsh Komarow, Nitza G. Shoham, Geryl Wood, Janet Jones, Nadira Mangra, Hector Carrero, Barbara S. Adams, Terry L. Moore, Kenneth Schikler, Hal Hoffman, Daniel J. Lovell, Robert Lipnick, Karyl Barron, John J. O'Shea, Daniel L. Kastner & Raphaela Goldbach‐Mansky. (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 & Rheumatism 46:12, pages 3340-3348.
Crossref
KEITH M. HULL, ELIZABETH DREWE, IVONA AKSENTIJEVICH, HARJOT K. SINGH, KONDI WONG, ELIZABETH M. MCDERMOTT, JANE DEAN, RICHARD J. POWELL & DANIEL L. KASTNER. (2002) The TNF Receptor-Associated Periodic Syndrome (TRAPS). Medicine 81:5, pages 349-368.
Crossref
Jérôme Feldmann, Anne-Marie Prieur, Pierre Quartier, Patrick Berquin, Stéphanie Certain, Elisabetta Cortis, Dominique Teillac-Hamel, Alain Fischer & Geneviève de Saint Basile. (2002) Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes. The American Journal of Human Genetics 71:1, pages 198-203.
Crossref

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