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Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts

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Donato Rigante. (2018) A developing portrait of hereditary periodic fevers in childhood. Expert Opinion on Orphan Drugs 6:1, pages 47-55.
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Donato Rigante. (2017) A systematic approach to autoinflammatory syndromes: a spelling booklet for the beginner. Expert Review of Clinical Immunology 13:6, pages 571-597.
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Articles from other publishers (19)

Jia Liu, Ranran Zhang, Zhi Yi, Yi Lin, Hong Chang & Qiuye Zhang. (2023) Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature. Pediatric Rheumatology 21:1.
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Jinjing Liu, Xin Yu, Chaoran Li, Yi Wang, Weihong Yu, Min Shen & Wenjie Zheng. (2021) Behçet's Syndrome in a Chinese Pedigree of NLRP3-Associated Autoinflammatory Disease: A Coexistence or Novel Presentation?. Frontiers in Medicine 8.
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Natalya Maltseva, Elena Borzova, Daria Fomina, Mojca Bizjak, Dorothea Terhorst‐Molawi, Mitja Košnik, Kanokvalai Kulthanan, Raisa Meshkova, Simon Francis Thomsen & Marcus Maurer. (2020) Cold urticaria – What we know and what we do not know. Allergy 76:4, pages 1077-1094.
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Giovanni Del Borrello, Daniela Guardo, Concetta Micalizzi, Isabella Ceccherini, Maurizio Miano, Marco GattornoCarlo Dufour. (2021) Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease. Pediatrics 147:3.
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Lina Ma, Stacey LeeAlyssa MontiethAndrew StephensonC. Stephen FosterStephen D. Anesi. (2021) CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME–ASSOCIATED UVEITIS AND PAPILLITIS. RETINAL Cases & Brief Reports 15:2, pages 149-154.
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Mary Vineetha, Seena Palakkal, Lissy Skaria, Naveena Jose, Dhiya Philomina & Anila Nithin. (2020) Autoinflammatory syndromes: A review. Journal of Skin and Sexually Transmitted Diseases 2, pages 5-12.
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Sophie Georgin-Lavialle, Antoine Fayand, François Rodrigues, Claude Bachmeyer, Léa Savey & Gilles Grateau. (2019) Autoinflammatory diseases: State of the art. La Presse Médicale 48:1, pages e25-e48.
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M. Cecilia Poli. (2018) New autoinflammatory diseases. Current Opinion in Pediatrics 30:6, pages 837-847.
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S. Georgin-Lavialle, F. Rodrigues, V. Hentgen, A. Fayand, P. Quartier, B. Bader-Meunier, C. Bachmeyer, L. Savey, C. Louvrier, G. Sarrabay, I. Melki, A. Belot, I. Koné-Paut & G. Grateau. (2018) Panorama des maladies auto-inflammatoires. La Revue de Médecine Interne 39:4, pages 214-232.
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P. Quartier, F. Rodrigues & S. Georgin-Lavialle. (2018) Cryopyrinopathies. La Revue de Médecine Interne 39:4, pages 287-296.
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Donato Rigante. (2018) New mosaic tiles in childhood hereditary autoinflammatory disorders. Immunology Letters 193, pages 67-76.
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Eduard Ling, Galina Ling & Vered Pinsk. (2017) A case of cryopyrin-associated periodic fever syndrome due to Q703K mutation in the NLRP3 gene . International Journal of Rheumatic Diseases 20:12, pages 2233-2235.
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I. Kone-Paut, P. Quartier, O. Fain, G. Grateau, P. Pillet, P. Le Blay, F. Bonnet, V. Despert, K. Stankovic-Stojanovic, L. Willemin, S. Quéré, O. Reigneau & E. Hachulla. (2017) Real-World Experience and Impact of Canakinumab in Cryopyrin-Associated Periodic Syndrome: Results From a French Observational Study. Arthritis Care & Research 69:6, pages 903-911.
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Santhosh Kumar, Brant R. Ward & Anne-Marie Irani. (2017) Future Prospects of Biologic Therapies for Immunologic Diseases. Immunology and Allergy Clinics of North America 37:2, pages 431-448.
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Di Wu & Min Shen. (2016) Muckle-Wells syndrome in Chinese patients: a single center case series. Clinical Rheumatology 36:4, pages 965-969.
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Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y Hehir-Kwa, Stefan H Lelieveld, Steven Castelein, Christian Gilissen, Ilse J de Wijs, Ronald JC Admiraal, Ronald JE Pennings, Henricus PM Kunst, Jiddeke M van de Kamp, Saskia Tamminga, Arjan C Houweling, Astrid S Plomp, Saskia M Maas, Pia AM de Koning Gans, Sarina G Kant, Christa M de Geus, Suzanna GM Frints, Els K Vanhoutte, Marieke F van Dooren, Marie- José H van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies Hoefsloot, Margit Schraders & Helger G Yntema. (2016) The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. European Journal of Human Genetics 25:3, pages 308-314.
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Claas Hinze & Dirk Foell. (2016) New diagnostic criteria for CAPS — turning horses into zebras?. Nature Reviews Rheumatology 13:1, pages 7-8.
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Giampaolo Merlini, Bouchra Asli & Jean-Paul Fermand. 2017. Waldenström’s Macroglobulinemia. Waldenström’s Macroglobulinemia 223 236 .
Martina Finetti, Alessia Omenetti, Silvia Federici, Roberta Caorsi & Marco Gattorno. (2016) Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review. Orphanet Journal of Rare Diseases 11:1.
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