Unexplained recurrent fever: When is autoinflammation the explanation?

Allergy: European Journal of Allergy and Clinical Immunology

Volumn 68, Issue 3, 2013, Pages 285-296

  Kallinich, T ^a   Gattorno, M ^b   Grattan, C E ^c   De Koning, H D ^d   Traidl Hoffmann, C ^e   Feist, E ^a   Krause, K ^a   Lipsker, D ^f   Navarini, A A ^g   Maurer, M ^a   Lachmann, H J ^h   Simon, A ^d  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b G GASLINI INSTITUTE   (Italy)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^f UNIVERSITÉ DE STRASBOURG   (France)

^g UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^h ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

immunology; paediatrics; urticaria

Indexed keywords

BIOLOGICAL MARKER; STEROID;

ANTIBIOTIC THERAPY; ARTICLE; AUTOIMMUNITY; AUTOINFLAMMATORY DISEASE; CINCA SYNDROME; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE ASSOCIATION; DISEASE DURATION; FAMILIAL MEDITERRANEAN FEVER; FAMILY HISTORY; HUMAN; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; HYPERTHERMIA; INFECTION; INFECTION SENSITIVITY; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MUNCHAUSEN SYNDROME BY PROXY; PFAPA SYNDROME; PRIORITY JOURNAL; PYREXIA IDIOPATHICA; RECURRENT FEVER; STEROID THERAPY; TREATMENT RESPONSE;

AUTOIMMUNE DISEASES; AUTOIMMUNITY; DIAGNOSIS, DIFFERENTIAL; FEVER; HUMANS; INFLAMMATION;

EID: 84873724291     PISSN: 01054538     EISSN: 13989995     Source Type: Journal    
DOI: 10.1111/all.12084     Document Type: Article

References (90)

1. Reimann HA,. Periodic disease. Medicine (Baltimore) 1951; 30: 219-245.
2. Dinarello CA, Gelfand JA,. Harrison′s Principles of Internal Medicine. New York: McGraw-Hill Publ. Co., 1998; 84-90.
3. Kluger MJ, Bartfai T, Dinarello CA,. New York Academy of Sciences & Lovelace Respiratory Research Institute. Molecular Mechanisms of Fever. New York Academy of Sciences, 1998.
4. Knockaert DC,. Recurrent fevers of unknown origin. Infect Dis Clin North Am 2007; 21: 1189-1211.
5. Kastner DL, Aksentijevich I, Goldbach-Mansky R,. Autoinflammatory disease reloaded: a clinical perspective. Cell 2010; 140: 784-790.
6. Ryan ME, Ferrigno K, O'Boyle T, Long SS,. Periodic fever and skin lesions caused by disseminated Mycobacterium chelonae infection in an immunocompetent child. Pediatr Infect Dis J 1996; 15: 270-272.
7. Lekstrom-Himes JA, Dale JK, Kingma DW, Diaz PS, Jaffe ES, Straus SE,. Periodic illness associated with Epstein-Barr virus infection. Clin Infect Dis 1996; 22: 22-27.
8. Cogswell FB,. The hypnozoite and relapse in primate malaria. Clin Microbiol Rev 1992; 5: 26-35.
9. Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol 2009; 124: 1161-1178.
10. Grüber C, Keil T, Kulig M, Roll S, Wahn U, Wahn V,. History of respiratory infections in the first 12 yr among children from a birth cohort. Pediatr Allergy Immunol 2008; 19: 505-512.
11. Johnson M,. Neoplastic fever. Palliat Med 1996; 10: 217-224.
12. Kurzrock R,. Cytokine deregulation in cancer. Biomed Pharmacother 2001; 55: 543-547.
13. Henderson C, Goldbach-Mansky R,. Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis. Curr Opin Rheumatol 2010; 22: 567-578.
14. Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, et al. Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol 2008; 28 (Suppl 1): S73-S83.
15. Masters SL, Simon A, Aksentijevich I, Kastner DL,. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 2009; 27: 621-668.
16. Kallinich T, Keitzer R, Puskas E, Boldt F,. Exercise-induced hyperthermia in childhood: a case report and pilot study. Acta Paediatr 2009; 98: 1217-1219.
17. Trejo-Hernandez J, Loredo-Abdala A, Orozco-Garibay JM,. Munchausen syndrome by proxy in Mexican children: medical, social, psychological and legal aspects. Rev Invest Clin 2011; 63: 253-262.
18. Zenone T,. Fever of unknown origin in adults: evaluation of 144 cases in a non-university hospital. Scand J Infect Dis 2006; 38: 632-638.
19. Roush MK, Nelson KM,. Understanding drug-induced febrile reactions. Am Pharm 1993; 33: 39-42.
20. Patel RA, Gallagher JC,. Drug fever. Pharmacotherapy 2010; 30: 57-69.
21. de Kleijn EM, van Lier HJ, van der Meer JW,. Fever of unknown origin (FUO) II. Diagnostic procedures in a prospective multicenter study of 167 patients. The Netherlands FUO Study Group. Medicine (Baltimore) 1997; 76: 401-414.
22. Bleeker-Rovers CP, Vos FJ, de Kleijn EM, Mudde AH, Dofferhoff TS, Richter C, et al. A prospective multicenter study on fever of unknown origin: the yield of a structured diagnostic protocol. Medicine (Baltimore) 2007; 86: 26-38.
23. Gathmann B, Grimbacher B, Beauté J, Dudoit Y, Mahlaoui N, Fischer A, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008. Clin Exp Immunol 2009; 157 (Suppl 1): 3-11.
24. Magnani C, Gatta G, Corazziari I, Kramarova E, Pastore G, Viscomi S, et al. Childhood malignancies in the EUROCARE study: the database and the methods of survival analysis. Eur J Cancer 2001; 37: 678-686.
25. Robert Koch-Institut. Zentrum für Krebsregisterdaten, Krebs in Deutschland 2007/2008. http://www.gekid.de/, 2012.
26. Kümpfel T, Hoffmann LA, Rübsamen H, Pöllmann W, Feneberg W, Hohlfeld R, et al. Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation. Arthritis Rheum 2007; 56: 2774-2783.
27. Tamir N, Langevitz P, Zemer D, Pras E, Shinar Y, Padeh S, et al. Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics. Am J Med Genet 1999; 87: 30-35.
28. Savage T, Loftus BG, Tormey V, McDermott MF, Moylett E,. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) or familial Hibernian fever: presentation in a four-day-old infant. J Clin Rheumatol 2008; 14: 342-345.
29. Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002; 81: 349-368.
30. Leslie KS, Lachmann HJ, Bruning E, McGrath JA, Bybee A, Gallimore JR, et al. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol 2006; 142: 1591-1597.
31. Dale DC, Hammond WPT,. Cyclic neutropenia: a clinical review. Blood Rev 1988; 2: 178-185.
32. Dale DC, Bolyard AA, Aprikyan A,. Cyclic neutropenia. Semin Hematol 2002; 39: 89-94.
33. Thomas KT, Feder HM Jr, Lawton AR, Edwards KM,. Periodic fever syndrome in children. J Pediatr 1999; 135: 15-21.
34. Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. J Pediatr 1999; 135: 98-101.
35. Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, et al. Familial Mediterranean fever at the millennium clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore) 1998; 77: 268-297.
36. Hoffman HM, Wanderer AA, Broide DH,. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 2001; 108: 615-620.
37. Stych B, Dobrovolny D,. Familial cold auto-inflammatory syndrome (FCAS): characterization of symptomatology and impact on patients' lives. Curr Med Res Opin 2008; 24: 1577-1582.
38. Muckle TJ, Wells M,. Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med 1962; 31: 235-248.
39. van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 2008; 87: 301-310.
40. Feder HM, Salazar JC,. A clinical review of 105 patients with PFAPA (a periodic fever syndrome). Acta Paediatr 2010; 99: 178-184.
41. de Koning HD, Bodar EJ, van der Meer JW, Simon A,. Schnitzler syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum 2007; 37: 137-148.
42. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40: 1879-1885.
43. Drenth JP, Haagsma CJ, van der Meer JW,. Hyperimmunoglobulinemia D and periodic fever syndrome the clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994; 73: 133-144.
44. Wurster VM, Carlucci JG, Feder HM Jr, Edwards KM,. Long-term follow-up of children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome. J Pediatr 2011; 159: 958-964.
45. Sohar E, Gafni J, Pras M, Heller H,. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967; 43: 227-253.
46. Akar S, Soyturk M, Onen F, Tunca M,. The relations between attacks and menstrual periods and pregnancies of familial Mediterranean fever patients. Rheumatol Int 2006; 26: 676-679.
47. Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003; 48: 2632-2644.
48. Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci USA 2011; 108: 7148-7153.
49. Padeh S, Livneh A, Pras E, Shinar Y, Lidar M, Feld O, et al. Familial Mediterranean fever in the first two years of life: a unique phenotype of disease in evolution. J Pediatr 2010; 156: 985-989.
50. Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, et al. 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 2001; 69: 301-314.
51. Muckle TJ,. The 'Muckle-Wells' syndrome. Br J Dermatol 1979; 100: 87-92.
52. Kallinich T, Haffner D, Niehues T, Huss K, Lainka E, Neudorf U, et al. Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics 2007; 119: e474-e483.
53. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 2006; 355: 581-592.
54. Bodar EJ, Kuijk LM, Drenth JP, van der Meer JW, Simon A, Frenkel J,. On-demand anakinra treatment is effective in mevalonate kinase deficiency. Ann Rheum Dis 2011; 70: 2155-2158.
55. Gattorno M, Pelagatti MA, Meini A, Obici L, Barcellona R, Federici S, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2008; 58: 1516-1520.
56. Hashkes PJ, Spalding SJ, Giannini EH, Huang B, Johnson A, Park G, et al. Rilonacept for colchicine-resistant or -intolerant familial Mediterranean Fever: a randomized trial. Ann Internal Med 2012; 157: 533-541.
57. Ben-Chetrit E, Levy M,. Familial Mediterranean fever. Lancet 1998; 351: 659-664.
58. Stewart L, Tolmie J, Galea P, Touitou I,. Familial Mediterranean fever in a cold climate: read The Lancet. Lancet 2000; 356: 2154.
59. Tchernitchko DO, Gérard-Blanluet M, Legendre M, Cazeneuve C, Grateau G, Amselem S,. Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever. Ann Rheum Dis 2006; 65: 1154-1157.
60. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 2002; 46: 3340-3348.
61. Lachmann HJ, Sengül B, Yavuzşen TU, Booth DR, Booth SE, Bybee A, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 2006; 45: 746-750.
62. Korkmaz C, Ozdogan H, Kasapcopur O, Yazici H,. Acute phase response in familial Mediterranean fever. Ann Rheum Dis 2002; 61: 79-81.
63. Ben-Zvi I, Livneh A,. Chronic inflammation in FMF: markers, risk factors, outcomes and therapy. Nat Rev Rheumatol 2011; 7: 105-112.
64. Yoshihara T, Imamura T, Yokoi K, Shibata M, Kano G, Osone S, et al. Potential use of procalcitonin concentrations as a diagnostic marker of the PFAPA syndrome. Eur J Pediatr 2007; 166: 621-622.
65. Yüksel S, Ekim M, Ozçakar ZB, Yalçınkaya F, Acar B, Oztuna D, et al. The value of procalcitonin measurements in children with familial Mediterranean fever. Rheumatol Int 2011; [Epub ahead of print].
66. Wittkowski H, Kuemmerle-Deschner JB, Austermann J, Holzinger D, Goldbach-Mansky R, Gramlich K, et al. MRP8 and MRP14, phagocyte-specific danger signals, are sensitive biomarkers of disease activity in cryopyrin-associated periodic syndromes. Ann Rheum Dis 2011; 70: 2075-2081.
67. Kallinich T, Wittkowski H, Keitzer R, Roth J, Foell D,. Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever. Ann Rheum Dis 2010; 69: 677-682.
68. Medlej-Hashim M, Petit I, Adib S, Chouery E, Salem N, Delague V, et al. Familial Mediterranean fever: association of elevated IgD plasma levels with specific MEFV mutations. Eur J Hum Genet 2001; 9: 849-854.
69. Gattorno M, Tassi S, Carta S, Delfino L, Ferlito F, Pelagatti MA, et al. Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum 2007; 56: 3138-3148.
70. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97: 133-144.
71. Gattorno M, Sormani MP, D'Osualdo A, Pelagatti MA, Caroli F, Federici S, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 2008; 58: 1823-1832.
72. Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever. J Rheumatol 2003; 30: 185-190.
73. Cazeneuve C, Hovannesyan Z, Geneviève D, Hayrapetyan H, Papin S, Girodon-Boulandet E, et al. Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis Rheum 2003; 48: 2324-2331.
74. Koné-Paut I, Hentgen V, Guillaume-Czitrom S, Compeyrot-Lacassagne S, Tran TA, Touitou I,. The clinical spectrum of 94 patients carrying a single mutated MEFV allele. Rheumatology (Oxford) 2009; 48: 840-842.
75. Kogan A, Shinar Y, Lidar M, Revivo A, Langevitz P, Padeh S, et al. Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am J Med Genet 2001; 102: 272-276.
76. Camus D, Shinar Y, Aamar S, Langevitz P, Ben-Zvi I, Livneh A, et al. 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. Clin Genet 2011; 82: 288-291.
77. Marek-Yagel D, Bar-Joseph I, Pras E, Berkun Y,. Is E148Q a benign polymorphism or a disease-causing mutation? J Rheumatol 2009; 36: 2372.
78. Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, et al. MEFV-gene analysis in Armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet 1999; 65: 88-97.
79. Aksentijevich I, D Putnam C, Remmers EF, Mueller JL, Le J, Kolodner RD, et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007; 56: 1273-1285.
80. Pelagatti MA, Meini A, Caorsi R, Cattalini M, Federici S, et al. Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis Rheum 2011; 63: 1141-1150.
81. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome International Hyper-IgD Study Group. Nat Genet 1999; 22: 178-181.
82. Simon A, Cuisset L, Vincent MF, van Der Velde-Visser SD, Delpech M, van Der Meer JW, et al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-Igd and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med 2001; 135: 338-343.
83. Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, et al. Mutations in PSMB8 cause CANDLE syndrome with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum 2011; 64: 895-907.
84. Torrelo A, Patel S, Colmenero I, Gurbindo D, Lendínez F, Hernández A, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol 2010; 62: 489-495.
85. Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, et al. Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med 2011; 365: 620-628.
86. Augey F, Renaudier P, Nicolas JF,. Generalized pustular psoriasis (Zumbusch): a French epidemiological survey. Eur J Dermatol 2006; 16: 669-673.
87. Zelickson BD, Muller SA,. Generalized pustular psoriasis. A review of 63 cases. Arch Dermatol 1991; 127: 1339-1345.
88. Ohkawara A, Yasuda H, Kobayashi H, Inaba Y, Ogawa H, Hashimoto I, et al. Generalized pustular psoriasis in Japan: two distinct groups formed by differences in symptoms and genetic background. Acta Derm Venereol 1996; 76: 68-71.
89. Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, et al. Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum 2011; 63: 830-839.
90. Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci USA 2008; 105: 1614-1619.