The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy

Clinical Rheumatology

Volumn 34, Issue 1, 2015, Pages 17-28

  Cantarini, Luca ^a   Vitale, Antonio ^a   Lucherini, Orso Maria ^a   De Clemente, Caterina ^a   Caso, Francesco ^a,b   Costa, Luisa ^c   Emmi, Giacomo ^d   Silvestri, Elena ^d   Magnotti, Flora ^a   Maggio, Maria Cristina ^e   Prinzi, Eugenia ^e   Lopalco, Giuseppe ^f   Frediani, Bruno ^a   Cimaz, Rolando ^g   Galeazzi, Mauro ^a   Rigante, Donato ^h  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e UNIVERSITY OF PALERMO   (Italy)

^f UNIVERSITY OF BARI   (Italy)

^g UNIVERSITY OF FLORENCE   (Italy)

^h FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

Author keywords

Adulthood; Autoinflammation; Genetic disorders; Interleukin 1 ; Periodic fever

Indexed keywords

INTERLEUKIN 1BETA; SERUM AMYLOID A;

ARTICLE; AUTOINFLAMMATORY DISEASE; CYTOKINE RELEASE; DIFFERENTIAL DIAGNOSIS; DISEASE ACTIVITY; DISEASE COURSE; FAMILIAL MEDITERRANEAN FEVER; GENE; GROUPS BY AGE; HUMAN; ITALY; KIDNEY AMYLOIDOSIS; MEDICAL DECISION MAKING; PATIENT REFERRAL; PRIORITY JOURNAL; RECURRENT FEVER; ADULT; AGE; CHILD; GENETICS; HEREDITARY AUTOINFLAMMATORY DISEASES; INNATE IMMUNITY;

ADULT; AGE FACTORS; CHILD; DIAGNOSIS, DIFFERENTIAL; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; IMMUNITY, INNATE; ITALY;

EID: 84929250225     PISSN: 07703198     EISSN: 14349949     Source Type: Journal    
DOI: 10.1007/s10067-014-2721-0     Document Type: Article

References (102)

1. 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
2. Joost PH, van der Meer JW (2006) The inflammasome: a linebacker of innate defense. N Engl J Med 355:730–732
3. Cantarini L, Rigante D, Brizi MG, Lucherini OM, Sebastiani GD, Vitale A, Gianneramo V, Galeazzi M (2012) Clinical and biochemical landmarks in systemic autoinflammatory diseases. Ann Med 44:664–673
4. Dinarello CA (2011) Interleukin-1 in the pathogenesis and treatment of inflammatory diseases. Blood 117:3720–3732
5. Rigante D (2012) The fresco of autoinflammatory diseases from the pediatric perspective. Autoimmun Rev 11:348–356
6. Lamkanfi M, Dixit VM (2009) Inflammasomes: guardians of cytosolic sanctity. Immunol Rev 227:95–105
7. Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthiere C, Touitou I (2008) The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat 29:803–808
8. French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17:25–31
9. Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R (1985) Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Clin Chim Acta 152:219–222
10. Houten SM, Wanders RJ, Waterham HR (2000) Biochemical and genetic aspects of mevalonate kinase and its deficiency. Biochim Biophys Acta 1529:19–32
11. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O'Shea JJ, Kastner DL et al (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97:133–144
12. Chan FK, Chun HJ, Zheng L, Siegel RM, Bui KL, Lenardo MJ (2000) A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling. Science 288:2351–2354
13. Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, Kastner DL (2006) The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci U S A 103:9982–9987
14. Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint BG (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 71:198–203
15. Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J (2004) NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20:319–325
16. Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, Grimprel E, Landman-Parker J, Hentgen V, Marlin S, McElreavey K, Sarkisian T, Grateau G, Alnemri ES, Amselem S (2008) Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A 105:1614–1619
17. Blau EB (1985) Familial granulomatous arthritis, iritis, and rash. J Pediatr 107:689–693
18. Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Häfner R, Chamaillard M, Zouali H, Thomas G, Hugot JP (2001) CARD15 mutations in Blau syndrome. Nat Genet 29:19–20
19. Masters SL, Simon A, Aksentijevich I, Kastner DL (2009) Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 27:621–668
20. Obici L, Merlini G (2012) Amyloidosis in autoinflammatory syndromes. Autoimmun Rev 12:14–17
21. Ben-Chetrit E, Touitou I (2009) Familial mediterranean Fever in the world. Arthritis Rheum 61:1447–1453
22. Lidar M, Yaqubov M, Zaks N, Ben-Horin S, Langevitz P, Livneh A (2006) The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever. J Rheumatol 33:1089–1092
23. Lidar M, Livneh A (2007) Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 65:318–324
24. Radakovic S, Holzer G, Tanew A (2013) Erysipelas-like erythema as a cutaneous sign of familial Mediterranean fever: a case report and review of the histopathologic findings. J Am Acad Dermatol 68:e61–e63
25. Ozen S, Demirkaya E, Amaryan G, Koné-Paut I, Polat A, Woo P, Uziel Y, Modesto C, Finetti M, Quartier P, Papadopoulou-Alataki E, Al-Mayouf SM, Fabio G, Gallizzi R, Cantarini L, Frenkel J, Nielsen S, Hofer M, Insalaco A, Acikel C, Ozdogan H, Martini A, Ruperto N, Gattorno M, Paediatric Rheumatology International Trials Organisation; Eurofever Project (2014) Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children. Ann Rheum Dis 73:662–667
26. Senel K, Melikoglu MA, Baykal T, Melikoglu M, Erdal A, Ugur M (2010) Protracted febrile myalgia syndrome in familial Mediterranean fever. Mod Rheumatol 20:410–412
27. Ben-Chetrit E, Levy M (1998) Familial Mediterranean fever. Lancet 351:659–664
28. Ben-Chetrit E, Bergmann S, Sood R (2006) Mechanism of the anti-inflammatory effect of colchicine in rheumatic diseases: a possible new outlook through microarray analysis. Rheumatology (Oxford) 45:274–282
29. Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, Yalçinkaya F, Ozen S, Majeed H, Ozdogan H, Kastner D, Booth D, Ben-Chetrit E, Pugnère D, Michelon C, Séguret F, Gershoni-Baruch R, International Study Group for Phenotype-Genotype Correlation in Familial Mediterranean Fever (2007) Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum 56:1706–1712
30. Cantarini L, Volpi N, Galeazzi M, Giani T, Fanti F, Lucherini OM, Aglianò M, Alessandrini C, Giannini F, Magi S, Greco G, Baldari CT, Cimaz R (2010) Colchicine myopathy and neuromyopathy: two cases with different characteristics. J Clin Rheumatol 16:229–232
31. Cantarini L, Volpi N, Lucherini OM, Giannini F, Galeazzi M (2009) A case of amyloid myopathy in a patient with familial Mediterranean fever. Clin Exp Rheumatol 27:S106–S107
32. Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W (2001) Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. Rheumatology (Oxford) 40:579–584
33. Steichen O, van der Hilst J, Simon A, Cuisset L, Grateau G (2009) A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol 36:1677–1681
34. Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Kimpen JL, Duran R, Poll-The BT, Kuis W (2000) Mevalonate kinase deficiency and Dutch type periodic fever. Clin Exp Rheumatol 18:525–532
35. Stabile A, Compagnone A, Napodano S, Raffaele CG, Patti M, Rigante D (2013) Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level. Rheumatol Int 33:3039–3042
36. Cantarini L, Vitale A, Magnotti F, Lucherini OM, Caso F, Frediani B, Galeazzi M, Rigante D (2013) Weekly oral alendronate in mevalonate kinase deficiency. Orphanet J Rare Dis 8:196
37. Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL (2001) The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype–phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 69:301–314
38. Rebelo SL, Bainbridge SE, Amel-Kashipaz MR, Radford PM, Powell RJ, Todd I, Tighe PJ (2006) Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. Arthritis Rheum 54:2674–2687
39. Kimberley FC, Lobito AA, Siegel RM, Screaton GR (2007) Falling into TRAPS-receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. Arthritis Res Ther 9:217
40. Dodé C, André M, Bienvenu T, Hausfater P, Pêcheux C, Bienvenu J, Lecron JC, Reinert P, Cattan D, Piette JC, Szajnert MF, Delpech M, Grateau G, French Hereditary Recurrent Inflammatory Disorder Study Group (2002) The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 46:2181–2188
41. Cantarini L, Rigante D, Merlini G, Vitale A, Caso F, Lucherini OM, Sfriso P, Frediani B, Punzi L, Galeazzi M, Cimaz R, Obici L (2013) 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. doi:10.1016/j.semarthrit.2013.12.002
42. Cantarini L, Imazio M, Brucato A, Lucherini OM, Galeazzi M (2010) Innate versus acquired immune response in the pathogenesis of recurrent idiopathic pericarditis. Autoimmun Rev 9:436–440
43. Cantarini L, Lucherini OM, Baldari CT, Laghi Pasini F, Galeazzi M (2010) Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome. Clin Exp Rheumatol 28:405–407
44. Cantarini L, Lucherini OM, Cimaz R, Baldari CT, Bellisai F, Rossi Paccani S, Laghi Pasini F, Capecchi PL, Sebastiani GD, Galeazzi M (2009) Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. Int J Immunopathol Pharmacol 22:1051–1058
45. 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 28:290–291
46. Cantarini L, Lucherini OM, Cimaz R, Galeazzi M (2010) Recurrent pericarditis caused by a rare mutation in the TNFRSF1A gene and with excellent response to anakinra treatment. Clin Exp Rheumatol 28:802
47. Cantarini L, Lucherini OM, Brucato A, Barone L, Cumetti D, Iacoponi F, Rigante D, Brambilla G, Penco S, Brizi MG, Patrosso MC, Valesini G, Frediani B, Galeazzi M, Cimaz R, Paolazzi G, Vitale A, Imazio M (2012) Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study. Clin Res Cardiol 101:525–531
48. Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL (2002) The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 81:349–368
49. Simon A, Park H, Maddipati R, Lobito AA, Bulua AC, Jackson AJ, Chae JJ, Ettinger R, de Koning HD, Cruz AC, Kastner DL, Komarow H, Siegel RM (2010) Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proc Natl Acad Sci U S A 107:9801–9806
50. Bulua AC, Simon A, Maddipati R, Pelletier M, Park H, Kim KY, Sack MN, Kastner DL, Siegel RM (2011) Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). J Exp Med 208:519–533
51. Dickie LJ, Aziz AM, Savic S, Lucherini OM, Cantarini L, Geiler J, Wong CH, Coughlan R, Lane T, Lachmann HJ, Hawkins PN, Robinson PA, Emery P, McGonagle D, McDermott MF (2012) Involvement of X-box binding protein 1 and reactive oxygen species pathways in the pathogenesis of tumour necrosis factor receptor-associated periodic syndrome. Ann Rheum Dis 71:2035–2043
52. Hoffman HM, Wanderer AA, Bride DH (2001) Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 108:615–620
53. Muckle TJ, Wells M (1962) Urticaria, deafness and amyloidosis: a new heredo-familial syndrome. Q J Med 31:235–248
54. 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 Rheumatol 19:103–106
55. Cantarini L, Lucherini OM, Frediani B, Brizi MG, Bartolomei B, Cimaz R, Galeazzi M, Rigante D (2011) Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes. Int J Immunopathol Pharmacol 24:827–836
56. Rigante D, Ansuini V, Caldarelli M, Bertoni B, La Torraca I, Stabile A (2006) Hydrocephalus in CINCA syndrome treated with anakinra. Childs Nerv Syst 22:334–337
57. Kitley JL, Lachmann HJ, Pinto A, Ginsberg L (2010) Neurologic manifestations of the cryopyrin-associated periodic syndrome. Neurology 74:1267–1270
58. Lepore L, Paloni G, Caorsi R, Alessio M, Rigante D, Ruperto N, Cattalini M, Tommasini A, Zulian F, Ventura A, Martini A, Gattorno M (2010) Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with anakinra. J Pediatr 157:310–315
59. Ebrahimi-Fakhari D, Wahlster L, Mackensen F, Blank N (2010) Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome. J Rheumatol 37:2196–2197
60. Jéru I, Le Borgne G, Cochet E, Hayrapetyan H, Duquesnoy P, Grateau G, Morali A, Sarkisian T, Amselem S (2011) Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum 63:1459–1464
61. Jéru I, Hentgen V, Normand S, Duquesnoy P, Cochet E, Delwail A, Grateau G, Marlin S, Amselem S, Lecron JC (2011) Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy. Arthritis Rheum 63:2142–2148
62. Rose CD, Martin TM, Wouters CH (2011) Blau syndrome revisited. Curr Opin Rheumatol 23:411–418
63. Sfriso P, Caso F, Tognon S, Galozzi P, Gava A, Punzi L (2012) Blau syndrome, clinical and genetic aspects. Autoimmun Rev 12:44–51
64. Ter Haar N, Lachmann H, Uzen S, Woo P, Uziel Y, Modesto C, Koné-Paut I, Cantarini L, Insalaco A, Neven B, Hofer M, Rigante D, Al-Mayouf S, Touitou I, Gallizzi R, Papadopoulou-Alataki E, Martino S, Kuemmerle-Deschner J, Obici L, Iagaru N, Simon A, Nielsen S, Martini A, Ruperto N, Gattorno M, Frenkel J, Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/Eurotraps Projects (2013) Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 72:678–685
65. Vitale A, Rigante D, Lucherini OM, Caso F, Muscari I, Magnotti F, Brizi MG, Guerrini S, Patti M, Punzi L, Galeazzi M, Cantarini L (2013) Biological treatments: new weapons in the management of monogenic autoinflammatory disorders. Mediat Inflamm 2013:939847
66. Seyahi E, Ozdogan H, Celik S, Ugurlu S, Yazici H (2006) Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents. Clin Exp Rheumatol 24:S99–S103
67. 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 10:173–178
68. Savic S, Dickie LJ, Wittmann M, McDermott MF (2012) Autoinflammatory syndromes and cellular responses to stress: pathophysiology, diagnosis and new treatment perspectives. Best Pract Res Clin Rheumatol 26:505–533
69. Cantarini L, Lucherini OM, Iacoponi F, Cimaz R, Simonini G, Rigante D, Laghi Pasini F, Baldari CT, Capecchi PL, Brizi MG, Galeazzi M (2010) Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders. Int J Immunopathol Pharmacol 23:1133–1141
70. Cantarini L, Iacoponi F, Lucherini OM, Obici L, Brizi MG, Cimaz R, Rigante D, Benucci M, Sebastiani GD, Brucato A, Sabadini L, Simonini G, Giani T, Laghi Pasini F, Baldari CT, Bellisai F, Valentini G, Bombardieri S, Paolazzi G, Galeazzi M (2011) Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults. Int J Immunopathol Pharmacol 24:695–702
71. Muscari I, Iacoponi F, Cantarini L, Lucherini OM, Simonini G, Brizi MG, Vitale A, Frediani B, Cimaz R, Galeazzi M (2012) The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature. Autoimmun Rev 12:10–13
72. Cantarini L, Vitale A, Lucherini OM, Muscari I, Magnotti F, Brizi G, Frediani B, Sebastiani GD, Galeazzi M, Rigante D (2013) Childhood versus adulthood-onset autoinflammatory disorders: myths and truths intertwined. Reumatismo 65:55–62
73. Cantarini L, Rigante D, Lucherini OM, Cimaz R, Laghi Pasini F, Baldari CT, Benucci M, Simonini G, Di Sabatino V, Brizi MG, Galeazzi M (2010) Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: personal experience and review of the literature. Int J Immunopathol Pharmacol 23:701–707
74. Trost S, Rosé CD (2005) Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome. J Rheumatol 32:175–177
75. Sayarlioglu M, Cefle A, Inanc M, Kamali S, Dalkilic E, Gul A, Ocal L, Aral O, Konice M (2005) Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases. Int J Clin Pract 59:202–205
76. Okutur K, Seber S, Oztekin E, Bes C, Borlu F (2008) Recurrent pericarditis as the initial manifestation of Familial Mediterranean fever. Med Sci Monit 14:CS139–CS141
77. Tutar HE, Imamoglu A, Kendirli T, Akar E, Atalay S, Akar N (2001) Isolated recurrent pericarditis in a patient with familial Mediterranean fever. Eur J Pediatr 160:264–265
78. Federici L, Rittore-Domingo C, Koné-Paut I, Jorgensen C, Rodière M, Le Quellec A, Touitou I (2006) A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis 65:1427–1432
79. Gattorno M, Sormani MP, D'Osualdo A, Pelagatti MA, Caroli F, Federici S, Cecconi M, Solari N, Meini A, Zulian F, Obici L, Breda L, Martino S, Tommasini A, Bossi G, Govers A, Touitou I, Woo P, Frenkel J, Koné-Paut I, Baldi M, Ceccherini I, Martini A (2008) A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 58:1823–1832
80. Marshall GS, Edwards KM, Butler J, Lawton AR (1987) Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 110:43–46
81. Marshall GS, Edwards KM, Lawton AR (1989) PFAPA syndrome. Pediatr Infect Dis J 8:658–659
82. Thomas KT, Feder HM Jr, Lawton AR, Edwards KM (1999) Periodic fever syndrome in children. J Pediatr 135:15–21
83. Cavuoto M, Bonagura VR (2008) Adult-onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis. Ann Allergy Asthma Immunol 100:170
84. Padeh S, Stoffman N, Berkun Y (2008) Periodic fever accompanied by aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA syndrome) in adults. Isr Med Assoc J 10:358–360
85. Cazzato M, Neri R, Possemato N, Puccini R, Bombardieri S (2013) A case of adult periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome associated with endocapillary proliferative glomerulonephritis. Clin Rheumatol 32:S33–S36
86. Colotto M, Maranghi M, Durante C, Rossetti M, Renzi A, Anatra MG (2011) PFAPA syndrome in a young adult with a history of tonsillectomy. Intern Med 50:223–225
87. Cantarini L, Vitale A, Galeazzi M, Frediani B (2012) A case of resistant adult-onset periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome responsive to anakinra. Clin Exp Rheumatol 30:593
88. Cantarini L, Vitale A, Bartolomei B, Galeazzi M, Rigante D (2012) Diagnosis of PFAPA syndrome applied to a cohort of 17 adults with unexplained recurrent fevers. Clin Exp Rheumatol 30:269–271
89. Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 43:227–253
90. 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
91. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879–1885
92. Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ, Bybee A, McDermott EM, La Regina M, Arostegui JI, Campistol JM, Worthington S, High KP, Molloy MG, Baker N, Bidwell JL, Castañer JL, Whiteford ML, Janssens-Korpola PL, Manna R, Powell RJ, Woo P, Solis P, Minden K, Frenkel J, Yagüe J, Mirakian RM, Hitman GA, McDermott MF (2003) Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 48:2632–2644
93. Lucherini OM, Obici L, Ferracin M, Fulci V, McDermott MF, Merlini G, Muscari I, Magnotti F, Dickie LJ, Galeazzi M, Negrini M, Baldari CT, Cimaz R, Cantarini L (2013) First report of circulating microRNAs in tumour necrosis factor receptor-associated periodic syndrome (TRAPS). PLoS ONE 8:e73443
94. 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 30:943–946
95. Goldbach-Mansky R (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. Clin Exp Immunol 167:391–404
96. Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, Fiore M, Delfino L, Lasigliè D, Ferraris C, Traggiai E, Di Duca M, Santamaria G, D'Osualdo A, Tosca M, Martini A, Ceccherini I, Rubartelli A, Gattorno M (2011) Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum 63:830–839
97. Vitale A, Rigante D, Maggio MC, Emmi G, Romano M, Silvestri E, Lucherini OM, Emmi L, Gerloni V, Cantarini L (2013) Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series. Clin Exp Rheumatol 31:155–156
98. Martin J, Kodjikian L, Duquesne A, Le Scanff J, Sève P (2009) Blau syndrome. QJM 104:997–998
99. Aksentijevich I, D'Putnam C, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL (2007) The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 56:1273–1285
100. Aróstegui JI, Aldea A, Modesto C, Rua MJ, Argüelles F, González-Enseñat MA, Ramos E, Rius J, Plaza S, Vives J, Yagüe J (2004) Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. Arthritis Rheum 50:4045–4050
101. Ravet N, Rouaghe S, Dodé C, Bienvenu J, Stirnemann J, Lévy P, Delpech M, Grateau G (2006) Clinical significance of P46L and R92Q substitutions in the tumor necrosis factor superfamily 1A gene. Ann Rheum Dis 65:1158–1162
102. Tchernitchko D, Chiminqgi M, Galactéros F, Préhu C, Segbena Y, Coulibaly H, Rebaya N, Loric S (2005) Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations. Eur J Hum Genet 13:513–515