{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T14:43:23Z","timestamp":1783694603599,"version":"3.55.0"},"reference-count":89,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2015,4,2]],"date-time":"2015-04-02T00:00:00Z","timestamp":1427932800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clin Rheumatol"],"published-print":{"date-parts":[[2015,7]]},"DOI":"10.1007\/s10067-015-2920-3","type":"journal-article","created":{"date-parts":[[2015,4,3]],"date-time":"2015-04-03T02:13:05Z","timestamp":1428027185000},"page":"1171-1180","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["The protean ocular involvement in monogenic autoinflammatory diseases: state of the art"],"prefix":"10.1007","volume":"34","author":[{"given":"Vittoria","family":"Bascherini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela","family":"Granato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Lopalco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Emmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Vannozzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Bacherini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Franceschini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florenzo","family":"Iannone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabella","family":"Salerni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Molinaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Messina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Frediani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Selmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donato","family":"Rigante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Cantarini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,4,2]]},"reference":[{"key":"2920_CR1","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.cell.2010.03.002","volume":"140","author":"DL Kastner","year":"2010","unstructured":"Kastner DL, Aksentijevich I, Goldbach-Mansky R (2010) Autoinflammatory disease reloaded: a clinical perspective. Cell 140:784\u2013790","journal-title":"Cell"},{"key":"2920_CR2","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.autrev.2014.08.001","volume":"13","author":"D Rigante","year":"2014","unstructured":"Rigante D, Vitale A, Lucherini OM, Cantarini L (2014) The hereditary autoinflammatory disorders uncovered. Autoimmun Rev 13:892\u2013900","journal-title":"Autoimmun Rev"},{"key":"2920_CR3","doi-asserted-by":"crossref","first-page":"485103","DOI":"10.1155\/2013\/485103","volume":"2013","author":"D Rigante","year":"2013","unstructured":"Rigante D, Frediani B, Galeazzi M, Cantarini L (2013) From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases. Biomed Res Int 2013:485103","journal-title":"Biomed Res Int"},{"key":"2920_CR4","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.autrev.2012.07.015","volume":"12","author":"I Muscari","year":"2012","unstructured":"Muscari I, Iacoponi F, Cantarini L, Lucherini OM, Simonini G, Brizi MG et al (2012) The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature. Autoimmun Rev 12:10\u201313","journal-title":"Autoimmun Rev"},{"key":"2920_CR5","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1111\/j.1742-1241.2004.00294.x","volume":"59","author":"M Sayarlioglu","year":"2005","unstructured":"Sayarlioglu M, Cefle A, Inanc M, Kamali S, Dalkilic E, Gul A et al (2005) Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases. Int J Clin Pract 59:202\u2013205","journal-title":"Int J Clin Pract"},{"key":"2920_CR6","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1177\/039463201102400315","volume":"24","author":"L Cantarini","year":"2011","unstructured":"Cantarini L, Iacoponi F, Lucherini OM, Obici L, Brizi MG, Cimaz R et al (2011) Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults. Int J Immunopathol Pharmacol 24:695\u2013702","journal-title":"Int J Immunopathol Pharmacol"},{"key":"2920_CR7","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s10067-014-2721-0","volume":"34","author":"L Cantarini","year":"2015","unstructured":"Cantarini L, Vitale A, Lucherini OM, De Clemente C, Caso F, Costa L et al (2015) The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy. Clin Rheumatol 34:17\u201328","journal-title":"Clin Rheumatol"},{"key":"2920_CR8","doi-asserted-by":"crossref","first-page":"664","DOI":"10.3109\/07853890.2011.598546","volume":"44","author":"L Cantarini","year":"2012","unstructured":"Cantarini L, Rigante D, Brizi MG, Lucherini OM, Sebastiani GD, Vitale A et al (2012) Clinical and biochemical landmarks in systemic autoinflammatory diseases. Ann Med 44:664\u2013673","journal-title":"Ann Med"},{"key":"2920_CR9","first-page":"1","volume":"14","author":"D Rigante","year":"2010","unstructured":"Rigante D (2010) The protean visage of systemic autoinflammatory syndromes: a challenge for inter-professional collaboration. Eur Rev Med Pharmacol Sci 14:1\u201318","journal-title":"Eur Rev Med Pharmacol Sci"},{"key":"2920_CR10","first-page":"290","volume":"28","author":"L Cantarini","year":"2010","unstructured":"Cantarini L, Lucherini OM, Cimaz R, Baldari CT, Laghi Pasini F, Galeazzi M (2010) Sacroileitis and pericarditis: atypical presentation of tumor necrosis factor receptor-associated periodic syndrome and response to etanercept therapy. Clin Exp Rheumatol 28:290\u2013291","journal-title":"Clin Exp Rheumatol"},{"key":"2920_CR11","doi-asserted-by":"crossref","first-page":"341","DOI":"10.3109\/07853890.2010.547212","volume":"43","author":"D Rigante","year":"2011","unstructured":"Rigante D, Cantarini L, Imazio M, Lucherini OM, Sacco E, Galeazzi M et al (2011) Autoinflammatory diseases and cardiovascular manifestations. Ann Med 43:341\u2013346","journal-title":"Ann Med"},{"key":"2920_CR12","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1007\/s12016-010-8219-x","volume":"44","author":"L Cantarini","year":"2013","unstructured":"Cantarini L, Imazio M, Brizi MG, Lucherini OM, Brucato A, Cimaz R et al (2013) Role of autoimmunity and autoinflammation in the pathogenesis of idiopathic recurrent pericarditis. Clin Rev Allergy Immunol 44:6\u201313","journal-title":"Clin Rev Allergy Immunol"},{"key":"2920_CR13","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1177\/039463201002300417","volume":"23","author":"L Cantarini","year":"2010","unstructured":"Cantarini L, Lucherini OM, Iacoponi F, Cimaz R, Simonini G, Rigante D et al (2010) Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders. Int J Immunopathol Pharmacol 23:1133\u20131141","journal-title":"Int J Immunopathol Pharmacol"},{"key":"2920_CR14","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.autrev.2014.10.005","volume":"14","author":"L Cantarini","year":"2015","unstructured":"Cantarini L, Lopalco G, Selmi C, Napodano S, De Rosa G, Caso F et al (2015) Autoimmunity and autoinflammation as the yin and yang of idiopathic recurrent acute pericarditis. Autoimmun Rev 14:90\u201397","journal-title":"Autoimmun Rev"},{"key":"2920_CR15","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1186\/ar2579","volume":"11","author":"HJ Lachmann","year":"2009","unstructured":"Lachmann HJ, Hawkins PN (2009) Developments in the scientific and clinical understanding of autoinflammatory disorders. Arthritis Res Ther 11:212","journal-title":"Arthritis Res Ther"},{"key":"2920_CR16","doi-asserted-by":"crossref","first-page":"101","DOI":"10.4081\/reumatismo.2011.101","volume":"63","author":"L Cantarini","year":"2011","unstructured":"Cantarini L, Rigante D, Brizi MG, Sebastiani GD, Lucherini OM, Galeazzi M et al (2011) The laboratory approach in the diagnosis of systemic autoinflammatory diseases. Reumatismo 63:101\u2013110","journal-title":"Reumatismo"},{"key":"2920_CR17","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1136\/annrheumdis-2011-201268","volume":"72","author":"N Haar Ter","year":"2013","unstructured":"Ter Haar N, Lachmann H, \u00d6zen S, Woo P, Uziel Y, Modesto C et al (2013) Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 72:678\u2013685","journal-title":"Ann Rheum Dis"},{"key":"2920_CR18","doi-asserted-by":"crossref","first-page":"939847","DOI":"10.1155\/2013\/939847","volume":"2013","author":"A Vitale","year":"2013","unstructured":"Vitale A, Rigante D, Lucherini OM, Caso F, Muscari I, Magnotti F et al (2013) Biological treatments: new weapons in the management of monogenic autoinflammatory disorders. Mediators Inflamm 2013:939847. doi: 10.1155\/2013\/939847","journal-title":"Mediators Inflamm"},{"key":"2920_CR19","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/S0022-3476(85)80394-2","volume":"107","author":"EB Blau","year":"1985","unstructured":"Blau EB (1985) Familial granulomatous arthritis, iritis, and rash. J Pediatr 107:689\u2013693","journal-title":"J Pediatr"},{"key":"2920_CR20","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1016\/j.autrev.2014.08.010","volume":"13","author":"F Caso","year":"2014","unstructured":"Caso F, Costa L, Rigante D, Vitale A, Cimaz R, Lucherini OM et al (2014) Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. Autoimmun Rev 13:1220\u20131229","journal-title":"Autoimmun Rev"},{"key":"2920_CR21","doi-asserted-by":"crossref","first-page":"155","DOI":"10.3109\/13816810.2010.492818","volume":"31","author":"C Villanueva-Mendoza","year":"2010","unstructured":"Villanueva-Mendoza C, Arellanes-Garc\u00eda L, Cubas-Lorenzo V, Jimenez-Martinez MC, Flores-Su\u00e1rez LF, Zenteno JC (2010) Familial case of Blau syndrome associated with a CARD15\/NOD2 mutation. Ophthalmic Genet 31:155\u2013158","journal-title":"Ophthalmic Genet"},{"key":"2920_CR22","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1038\/ng720","volume":"29","author":"C Miceli-Richard","year":"2001","unstructured":"Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, H\u00e4fner R et al (2001) CARD15 mutations in Blau syndrome. Nat Genet 29:19\u201320","journal-title":"Nat Genet"},{"key":"2920_CR23","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/s10067-014-2493-6","volume":"34","author":"F Torre La","year":"2015","unstructured":"La Torre F, Lapadula G, Cantarini L, Lucherini OM, Iannone F (2015) Early-onset sarcoidosis caused by a rare CARD15\/NOD2 de novo mutation and responsive to infliximab: a case report with long-term follow-up and review of the literature. Clin Rheumatol 34:391\u2013395","journal-title":"Clin Rheumatol"},{"key":"2920_CR24","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1002\/art.24222","volume":"60","author":"TM Martin","year":"2009","unstructured":"Martin TM, Zhang Z, Kurz P, Ros\u00e9 CD, Chen H, Lu H et al (2009) The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. Arthritis Rheum 60:611\u2013618","journal-title":"Arthritis Rheum"},{"key":"2920_CR25","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1093\/rheumatology\/keq431","volume":"50","author":"SM Sharma","year":"2011","unstructured":"Sharma SM, Martin TM, Ros\u00e9 CD, Dick AD, Ramanan AV (2011) Distinguishing between the innate immune response due to ocular inflammation and infection in a child with juvenile systemic granulomatous disease treated with anti-TNF-\u03b1 monoclonal antibodies. Rheumatology (Oxford) 50:990\u2013992","journal-title":"Rheumatology (Oxford)"},{"key":"2920_CR26","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/S0002-9394(02)01709-9","volume":"134","author":"PA Latkany","year":"2002","unstructured":"Latkany PA, Jabs DA, Smith JR, Rosenbaum JT, Tessler H, Schwab IR et al (2002) Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. Am J Ophthalmol 134:897\u2013904","journal-title":"Am J Ophthalmol"},{"key":"2920_CR27","author":"E Carre\u00f1o","year":"2014","unstructured":"Carre\u00f1o E, Guly CM, Chilov M, Hinchcliffe A, Arostegui JI, Lee RW et al (2014) Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). Acta Ophthalmol. doi: 10.1111\/aos.12544","journal-title":"Acta Ophthalmol"},{"key":"2920_CR28","doi-asserted-by":"crossref","first-page":"3805","DOI":"10.1002\/art.22966","volume":"56","author":"JI Ar\u00f3stegui","year":"2007","unstructured":"Ar\u00f3stegui JI, Arnal C, Merino R, Modesto C, Antonia Carballo M, Moreno P et al (2007) NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. Arthritis Rheum 56:3805\u20133813","journal-title":"Arthritis Rheum"},{"key":"2920_CR29","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1002\/humu.20720","volume":"29","author":"F Milhavet","year":"2008","unstructured":"Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I et al (2008) The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat 29:803\u2013808","journal-title":"Hum Mutat"},{"key":"2920_CR30","first-page":"173","volume":"10","author":"D Rigante","year":"2006","unstructured":"Rigante D, La Torraca I, Avallone L, Pugliese AL, Gaspari S, Stabile A (2006) The pharmacologic basis of treatment with colchicine in children with familial Mediterranean fever. Eur Rev Med Pharmacol Sci 10:173\u2013178","journal-title":"Eur Rev Med Pharmacol Sci"},{"key":"2920_CR31","first-page":"318","volume":"65","author":"M Lidar","year":"2007","unstructured":"Lidar M, Livneh A (2007) Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 65:318\u2013324","journal-title":"Neth J Med"},{"key":"2920_CR32","first-page":"S91","volume":"28","author":"L Cantarini","year":"2010","unstructured":"Cantarini L, Capecchi PL, Lucherini OM, Laghi Pasini F, Galeazzi M (2010) Familial Mediterranean fever diagnosed in an elderly patient. Clin Exp Rheumatol 28:S91","journal-title":"Clin Exp Rheumatol"},{"key":"2920_CR33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1001\/archopht.1959.04220010005001","volume":"62","author":"I Michaelson","year":"1959","unstructured":"Michaelson I, Eliakim M, En E, Rachmilewitz M (1959) Fundal changes resembling colloid bodies in recurrent polyserositis (periodic disease). AMA Arch Ophthalmol 62:1\u20134","journal-title":"AMA Arch Ophthalmol"},{"key":"2920_CR34","first-page":"644","volume":"9","author":"H Yazici","year":"1982","unstructured":"Yazici H, Pazarli H (1982) Eye involvement in a patient with familial Mediterranean fever. J Rheumatol 9:644","journal-title":"J Rheumatol"},{"key":"2920_CR35","doi-asserted-by":"crossref","first-page":"593","DOI":"10.5301\/ejo.5000398","volume":"24","author":"A Yazici","year":"2014","unstructured":"Yazici A, Ozdal P, Yuksekkaya P, Elgin U, Teke MY, Sari E (2014) Ophthalmic manifestations in familial Mediterranean fever: a case series of 6 patients. Eur J Ophthalmol 24:593\u2013598","journal-title":"Eur J Ophthalmol"},{"key":"2920_CR36","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/S0002-9394(14)77072-2","volume":"110","author":"A Hirsh","year":"1990","unstructured":"Hirsh A, Huna R, Ashkenazi I, Bartov E, Blumenthal M (1990) Recurrent bilateral panuveitis and rhegmatogenous retinal detachment in a patient with familial Mediterranean fever. Am J Ophthalmol 110:702\u2013703","journal-title":"Am J Ophthalmol"},{"key":"2920_CR37","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s100670200083","volume":"21","author":"J Finsterer","year":"2002","unstructured":"Finsterer J, St\u00f6llberger C, Shinar Y (2002) Cranial nerve lesions and abnormal visually evoked potentials associated with the M694V mutation in familial Mediterranean fever. Clin Rheumatol 21:317\u2013321","journal-title":"Clin Rheumatol"},{"key":"2920_CR38","first-page":"141","volume":"13","author":"A Lossos","year":"1993","unstructured":"Lossos A, Eliashiv S, Ben-Chetrit E, Reches A (1993) Optic neuritis associated with familial Mediterranean fever. J Clin Neuroophthalmol 13:141\u2013143","journal-title":"J Clin Neuroophthalmol"},{"key":"2920_CR39","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1007\/s10067-014-2722-z","volume":"33","author":"D Rigante","year":"2014","unstructured":"Rigante D, Lopalco G, Vitale A, Lucherini OM, De Clemente C, Caso F et al (2014) Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome. Clin Rheumatol 33:1197\u20131207","journal-title":"Clin Rheumatol"},{"issue":"3 Suppl 77","key":"2920_CR40","first-page":"141","volume":"31","author":"F Magnotti","year":"2013","unstructured":"Magnotti F, Vitale A, Rigante D, Lucherini OM, Cimaz R, Muscari I et al (2013) The most recent advances in pathophysiology and management of tumour necrosis factor receptor-associated periodic syndrome (TRAPS): personal experience and literature review. Clin Exp Rheumatol 31(3 Suppl 77):141\u2013149","journal-title":"Clin Exp Rheumatol"},{"key":"2920_CR41","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.autrev.2012.07.020","volume":"12","author":"L Cantarini","year":"2012","unstructured":"Cantarini L, Lucherini OM, Muscari I, Frediani B, Galeazzi M, Brizi MG et al (2012) Tumour necrosis factor receptor-associated periodic syndrome (TRAPS): state of the art and future perspectives. Autoimmun Rev 12:38\u201343","journal-title":"Autoimmun Rev"},{"key":"2920_CR42","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1016\/j.semarthrit.2013.12.002","volume":"43","author":"L Cantarini","year":"2014","unstructured":"Cantarini L, Rigante D, Merlini G, Vitale A, Caso F, Lucherini OM et al (2014) The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up. Semin Arthritis Rheum 43:818\u2013823","journal-title":"Semin Arthritis Rheum"},{"key":"2920_CR43","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399405009749","volume":"7","author":"S Stojanov","year":"2005","unstructured":"Stojanov S, McDermott MF (2005) The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Rev Mol Med 7:1\u201318","journal-title":"Expert Rev Mol Med"},{"key":"2920_CR44","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1097\/01.bor.0000198006.65697.5b","volume":"18","author":"J Samuels","year":"2006","unstructured":"Samuels J, Ozen S (2006) Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheumatol 18:108\u2013117","journal-title":"Curr Opin Rheumatol"},{"key":"2920_CR45","doi-asserted-by":"crossref","first-page":"2160","DOI":"10.1136\/annrheumdis-2013-204184","volume":"73","author":"HJ Lachmann","year":"2014","unstructured":"Lachmann HJ, Papa R, Gerhold K, Obici L, Touitou I, Cantarini L et al (2014) The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever\/EUROTRAPS international registry. Ann Rheum Dis 73:2160\u20132167. doi: 10.1136\/annrheumdis-2013-204184","journal-title":"Ann Rheum Dis"},{"key":"2920_CR46","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.jbspin.2003.10.008","volume":"71","author":"C Masson","year":"2004","unstructured":"Masson C, Simon V, Hopp\u00e9 E, Insalaco P, Ciss\u00e9 I, Audran M (2004) Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases. Joint Bone Spine 71:284\u2013290","journal-title":"Joint Bone Spine"},{"key":"2920_CR47","doi-asserted-by":"crossref","first-page":"2181","DOI":"10.1002\/art.10429","volume":"46","author":"C Dod\u00e9","year":"2002","unstructured":"Dod\u00e9 C, Andr\u00e9 M, Bienvenu T, Hausfater P, P\u00eacheux C, Bienvenu J et al (2002) The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 46:2181\u20132188","journal-title":"Arthritis Rheum"},{"key":"2920_CR48","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1053\/j.gastro.2005.09.014","volume":"130","author":"SL Haas","year":"2006","unstructured":"Haas SL, Lohse P, Schmitt WH, Hildenbrand R, Karaorman M, Singer MV et al (2006) Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution. Gastroenterology 130:172\u2013178","journal-title":"Gastroenterology"},{"key":"2920_CR49","first-page":"175","volume":"32","author":"S Trost","year":"2005","unstructured":"Trost S, Rose CD (2005) Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome. J Rheumatol 32:175\u2013177","journal-title":"J Rheumatol"},{"key":"2920_CR50","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1097\/01.rhu.0000195106.34348.59","volume":"11","author":"M Hurst","year":"2005","unstructured":"Hurst M, Hull K, Nicholls D, Ameratunga R (2005) Hereditary periodic fever syndrome sans fever or distinct periodicity presenting with psychosis. J Clin Rheumatol 11:329\u2013330","journal-title":"J Clin Rheumatol"},{"key":"2920_CR51","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1093\/ndt\/gfk098","volume":"21","author":"G Rudofsky","year":"2006","unstructured":"Rudofsky G, Hoffmann F, Muller K, Filser M, Lohse P, Beimler J et al (2006) A nephrotic patient with tumor necrosis factor receptor associated syndrome, IgA nephropathy and CNS involvement. Nephrol Dial Transplant 21:1109\u20131112","journal-title":"Nephrol Dial Transplant"},{"key":"2920_CR52","first-page":"1487","volume":"136","author":"JR Toro","year":"2000","unstructured":"Toro JR, Aksentijevich I, Hull K, Dean J, Kastner DL (2000) Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch Dermatol 136:1487\u20131494","journal-title":"Arch Dermatol"},{"key":"2920_CR53","doi-asserted-by":"crossref","first-page":"2774","DOI":"10.1002\/art.22795","volume":"56","author":"T K\u00fcmpfel","year":"2007","unstructured":"K\u00fcmpfel T, Hoffmann LA, R\u00fcbsamen H, P\u00f6llmann W, Feneberg W, Hohlfeld R et al (2007) Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation. Arthritis Rheum 56:2774\u20132783","journal-title":"Arthritis Rheum"},{"key":"2920_CR54","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1136\/ard.2003.016006","volume":"63","author":"K Minden","year":"2004","unstructured":"Minden K, Aganna E, McDermott MF, Zink A (2004) Tumor necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement. Ann Rheum Dis 63:1356\u20131357","journal-title":"Ann Rheum Dis"},{"key":"2920_CR55","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1046\/j.0902-4441.2001.469umedoc.469.x","volume":"67","author":"A R\u00f6sen-Wolff","year":"2001","unstructured":"R\u00f6sen-Wolff A, Kreth HW, Hofmann S, H\u00f6hne K, Heubner G, M\u00f6bius D et al (2001) Periodic fever (TRAPS) caused by mutations in the TNF-alpha receptor 1 (TNFRSF1A) gene of three German patients. Eur J Haematol 67:105\u2013109","journal-title":"Eur J Haematol"},{"key":"2920_CR56","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.clim.2012.09.011","volume":"147","author":"R Burgh van der","year":"2013","unstructured":"van der Burgh R, Ter Haar NM, Boes ML, Frenkel J (2013) Mevalonate kinase deficiency, a metabolic autoinflammatory disease. Clin Immunol 147:197\u2013206","journal-title":"Clin Immunol"},{"key":"2920_CR57","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S1388-1981(00)00135-9","volume":"1529","author":"SM Houten","year":"2000","unstructured":"Houten SM, Wanders RJ, Waterham HR (2000) Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta 1529:19\u201332","journal-title":"Biochim Biophys Acta"},{"key":"2920_CR58","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1177\/039463201402700404","volume":"27","author":"S Esposito","year":"2014","unstructured":"Esposito S, Ascolese B, Senatore L, Bosis S, Verrecchia E, Cantarini L et al (2014) Current advances in the understanding and treatment of mevalonate kinase deficiency. Int J Immunopathol Pharmacol 27:491\u2013498","journal-title":"Int J Immunopathol Pharmacol"},{"key":"2920_CR59","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1186\/1750-1172-8-196","volume":"8","author":"L Cantarini","year":"2013","unstructured":"Cantarini L, Vitale A, Magnotti F, Lucherini OM, Caso F, Frediani B et al (2013) Weekly oral alendronate in mevalonate kinase deficiency. Orphanet J Rare Dis 8:196","journal-title":"Orphanet J Rare Dis"},{"key":"2920_CR60","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1542\/peds.111.2.258","volume":"111","author":"V Prietsch","year":"2003","unstructured":"Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR et al (2003) Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics 111:258\u2013261","journal-title":"Pediatrics"},{"key":"2920_CR61","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1007\/s10545-005-0178-7","volume":"28","author":"B Balgobind","year":"2005","unstructured":"Balgobind B, Wittebol-Post D, Frenkel J (2005) Retinitis pigmentosa in mevalonate kinase deficiency. J Inherit Metab Dis 28:1143\u20131145","journal-title":"J Inherit Metab Dis"},{"key":"2920_CR62","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1023\/A:1024493318913","volume":"26","author":"BT Poll-The","year":"2003","unstructured":"Poll-The BT, de Buy M, Wenniger-Prick LJ, Barth PG, Duran M (2003) The eye as a window to inborn errors of metabolism. J Inherit Metab Dis 26:229\u2013244","journal-title":"J Inherit Metab Dis"},{"key":"2920_CR63","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.1001\/archopht.122.8.1190","volume":"122","author":"SJ Fliesler","year":"2004","unstructured":"Fliesler SJ, Peachey NS, Richards MJ, Nagel BA, Vaughan DK (2004) Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features. Arch Ophthalmol 122:1190\u20131200","journal-title":"Arch Ophthalmol"},{"key":"2920_CR64","doi-asserted-by":"crossref","first-page":"19656","DOI":"10.1074\/jbc.273.31.19656","volume":"273","author":"D Yan","year":"1998","unstructured":"Yan D, Swain PK, Breuer D, Tucker RM, Wu W, Fujita R et al (1998) Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J Biol Chem 273:19656\u201319663","journal-title":"J Biol Chem"},{"key":"2920_CR65","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1067\/mai.2001.118790","volume":"108","author":"HM Hoffman","year":"2001","unstructured":"Hoffman HM, Wanderer AA, Broide DH (2001) Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 108:615\u2013620","journal-title":"J Allergy Clin Immunol"},{"key":"2920_CR66","first-page":"943","volume":"30","author":"A Vitale","year":"2012","unstructured":"Vitale A, Lucherini OM, Galeazzi M, Frediani B, Cantarini L (2012) Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series. Clin Exp Rheumatol 30:943\u2013946","journal-title":"Clin Exp Rheumatol"},{"key":"2920_CR67","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.jcjo.2014.01.007","volume":"49","author":"L Espandar","year":"2014","unstructured":"Espandar L, Boehlke CS, Kelly MP (2014) First report of keratitis in familial cold autoinflammatory syndrome. Can J Ophthalmol 49:304\u2013306","journal-title":"Can J Ophthalmol"},{"key":"2920_CR68","first-page":"235","volume":"31","author":"TJ Muckle","year":"1962","unstructured":"Muckle TJ, Wells M (1962) Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med 31:235\u2013248","journal-title":"Q J Med"},{"key":"2920_CR69","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1093\/rheumatology\/kel399","volume":"46","author":"T Lequerr\u00e9","year":"2007","unstructured":"Lequerr\u00e9 T, Vittecoq O, Saugier-Veber P, Goldenberg A, Patoz P, Fr\u00e9bourg T et al (2007) A cryopyrin associated periodic syndrome with joint destruction. Rheumatology 46:709\u2013714","journal-title":"Rheumatology"},{"key":"2920_CR70","doi-asserted-by":"crossref","unstructured":"Scarpioni R, Rigante D, Cantarini L, Ricardi M, Albertazzi V, Melfa L, et al (2014) Renal involvement in secondary amyloidosis of Muckle-Wells syndrome: marked improvement of renal function and reduction of proteinuria after therapy with human anti-interleukin-1\u03b2 monoclonal antibody canakinumab. Clin Rheumatol","DOI":"10.1007\/s10067-013-2481-2"},{"key":"2920_CR71","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1212\/WNL.0b013e3181d9ed69","volume":"74","author":"JL Kitley","year":"2010","unstructured":"Kitley JL, Lachmann HJ, Pinto A, Ginsberg L (2010) Neurologic manifestations of the cryopyrin-associated periodic syndrome. Neurology 74:1267\u20131270","journal-title":"Neurology"},{"key":"2920_CR72","first-page":"1581","volume":"7","author":"M Kawai","year":"2013","unstructured":"Kawai M, Yoshikawa T, Nishikomori R, Heike T, Takahashi K (2013) Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome. Clin Ophthalmol 7:1581\u20131585","journal-title":"Clin Ophthalmol"},{"key":"2920_CR73","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1097\/ICO.0b013e3182784ad3","volume":"32","author":"IR Gorovoy","year":"2013","unstructured":"Gorovoy IR, Gorovoy JB, Salomao D, Gorovoy MS (2013) Chronic keratitis with intrastromal epithelioid histiocytes: a new finding in Muckle-Wells syndrome. Cornea 32:510\u2013512","journal-title":"Cornea"},{"key":"2920_CR74","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1038\/sj.eye.6702704","volume":"21","author":"A Shakeel","year":"2007","unstructured":"Shakeel A, Gouws P (2007) Muckle-Wells syndrome: another cause of acute anterior uveitis. Eye (Lond) 21:849\u2013850","journal-title":"Eye (Lond)"},{"key":"2920_CR75","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1177\/039463201102400402","volume":"24","author":"L Cantarini","year":"2011","unstructured":"Cantarini L, Lucherini OM, Frediani B, Brizi MG, Bartolomei B, Cimaz R et al (2011) Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes. Int J Immunopathol Pharmacol 24:827\u2013836","journal-title":"Int J Immunopathol Pharmacol"},{"key":"2920_CR76","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/S1074-7613(04)00046-9","volume":"20","author":"L Agostini","year":"2004","unstructured":"Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J (2004) NALP3 forms an IL-1\u03b2-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20:319\u2013325","journal-title":"Immunity"},{"key":"2920_CR77","doi-asserted-by":"crossref","first-page":"109","DOI":"10.2165\/11595040-000000000-00000","volume":"14","author":"T Miyamae","year":"2012","unstructured":"Miyamae T (2012) Cryopyrin-associated periodic syndromes: diagnosis and management. Pediatric Drugs 14:109\u2013117","journal-title":"Pediatric Drugs"},{"key":"2920_CR78","author":"R Levy","year":"2014","unstructured":"Levy R, G\u00e9rard L, Kuemmerle-Deschner J, Lachmann HJ, Kon\u00e9-Paut I, Cantarini L et al (2014) Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. Ann Rheum Dis. doi: 10.1136\/annrheumdis-2013-204991","journal-title":"Ann Rheum Dis"},{"key":"2920_CR79","first-page":"103","volume":"19","author":"AM Prieur","year":"2001","unstructured":"Prieur AM (2001) A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumat 19:103\u2013106","journal-title":"Clin Exp Rheumat"},{"key":"2920_CR80","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1007\/s00381-006-1280-3","volume":"22","author":"D Rigante","year":"2006","unstructured":"Rigante D, Ansuini V, Caldarelli M, Bertoni B, La Torraca I, Stabile A (2006) Hydrocephalus in CINCA syndrome treated with anakinra. Childs Nerv Syst 22:334\u2013337","journal-title":"Childs Nerv Syst"},{"key":"2920_CR81","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s00247-006-0358-0","volume":"37","author":"SC Hill","year":"2007","unstructured":"Hill SC, Namde M, Dwyer A, Poznanski A, Canna S, Goldbach-Mansky R (2007) Arthropathy of neonatal onset multisystem inflammatory disease (NOMID\/CINCA). Pediatr Radiol 37:145\u2013152","journal-title":"Pediatr Radiol"},{"key":"2920_CR82","doi-asserted-by":"crossref","first-page":"1386","DOI":"10.1001\/archopht.118.10.1386","volume":"118","author":"H Dollfus","year":"2000","unstructured":"Dollfus H, H\u00e4fner R, Hofmann HM, Russo RA, Denda L, Gonzales LD et al (2000) Chronic infantile neurological cutaneous and articular\/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol 118:1386\u20131392","journal-title":"Arch Ophthalmol"},{"key":"2920_CR83","doi-asserted-by":"crossref","first-page":"59","DOI":"10.3928\/0191-3913-19960101-15","volume":"33","author":"SA Sadiq","year":"1996","unstructured":"Sadiq SA, Gregson RM, Downes RN (1996) The CINCA syndrome: a rare cause of uveitis in childhood. J Pediatr Ophthalmol Strabismus 33:59\u201363","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"2920_CR84","doi-asserted-by":"crossref","unstructured":"Ad\u00e1n A, Sol\u00e9 M, Corcostegui B, Navarro R, Bur\u00e9s A (2009) Cytological vitreous findings in a patient with infantile neurological cutaneous and articular (CINCA) syndrome. BMJ Case Rep 2009. doi: 10.1136\/bcr.09.2008.0992","DOI":"10.1136\/bcr.09.2008.0992"},{"key":"2920_CR85","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1007\/s12348-010-0018-2","volume":"1","author":"C Terrada","year":"2011","unstructured":"Terrada C, Neven B, Boddaert N, Souied EH, Prieur AM, Quartier P et al (2011) Ocular modifications in a young girl with cryopyrin-associated periodic syndromes responding to interleukin-1 receptor antagonist anakinra. J Ophthalmic Inflamm Infect 1:133\u2013136","journal-title":"J Ophthalmic Inflamm Infect"},{"key":"2920_CR86","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1136\/bjo.2006.0101477","volume":"91","author":"SC Teoh","year":"2007","unstructured":"Teoh SC, Sharma S, Hogan A, Lee R, Ramanan AV, Dick AD (2007) Tailoring biological treatment: anakinra treatment of posterior uveitis associated with the CINCA syndrome. Br J Ophthalmol 91:263\u2013264","journal-title":"Br J Ophthalmol"},{"key":"2920_CR87","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s00296-009-0939-y","volume":"30","author":"D Rigante","year":"2010","unstructured":"Rigante D, Stabile A, Minnella A, Avallone L, Ziccardi L, Bersani G et al (2010) Post-inflammatory retinal dystrophy in CINCA syndrome. Rheumatol Int 30:389\u2013393","journal-title":"Rheumatol Int"},{"key":"2920_CR88","first-page":"933","volume":"44","author":"C Khemani","year":"2007","unstructured":"Khemani C, Khubchandani R (2007) CINCA syndrome. Indian Pediatr 44:933\u2013936","journal-title":"Indian Pediatr"},{"key":"2920_CR89","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1111\/j.1651-2227.2001.tb01367.x","volume":"90","author":"RA Russo","year":"2001","unstructured":"Russo RA, Katsicas MM (2001) Chronic infantile neurological cutaneous and articular syndrome: two new cases with rare manifestations. Acta Paediatr 90:1076\u20131079","journal-title":"Acta Paediatr"}],"container-title":["Clinical Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10067-015-2920-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10067-015-2920-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10067-015-2920-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,5,4]],"date-time":"2022-05-04T04:41:05Z","timestamp":1651639265000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10067-015-2920-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,2]]},"references-count":89,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["2920"],"URL":"https:\/\/doi.org\/10.1007\/s10067-015-2920-3","relation":{},"ISSN":["0770-3198","1434-9949"],"issn-type":[{"value":"0770-3198","type":"print"},{"value":"1434-9949","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,2]]}}}