Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Annals of the Rheumatic Diseases

Volumn 74, Issue 5, 2015, Pages 799-805

  Federici, Silvia ^a   Sormani, Maria Pia ^b   Ozen, Seza ^c   Lachmann, Helen J ^d   Amaryan, Gayane ^e   Woo, Patricia ^d   Koné Paut, Isabelle ^f   Dewarrat, Natacha ^g,h   Cantarini, Luca ⁱ   Insalaco, Antonella ^j   Uziel, Yosef ^k   Rigante, Donato ^l   Quartier, Pierre ^m   Demirkaya, Erkan ⁿ   Herlin, Troels ^o   Meini, Antonella ^p   Fabio, Giovanna ^q   Kallinich, Tilmann ^r   Martino, Silvana ^s   Butbul, Aviel Yonatan ^t   Olivieri, Alma ^u   Kuemmerle Deschner, Jasmin ^v   Neven, Benedicte ^m   Simon, Anna ^w   Ozdogan, Huri ^x   Touitou, Isabelle ^y   Frenkel, Joost ^z   Hofer, Michael ^g,h   Martini, Alberto ^b   Ruperto, Nicolino ^a   Gattorno, Marco ^a   Espada, Graciela ^aa   Russo, Ricardo ^aa   De Cunto, Carmen ^aa   Boros, Christina ^aa   Borzutzky, Arturo ^aa   Jelusic Drazic, Marija ^aa   Dolezalova, Pavla ^aa   Nielsen, Susan ^aa   Hentgen, Veronique ^aa   Schwarz, Tobias ^aa   Berendes, Rainer ^aa   Jansson, Annette ^aa   Horneff, Gerd ^aa   Papadopoulou Alataki, Efimia ^aa   Tsitsami, Elena ^aa   Tsakalidou, Florence Kanakoudi ^aa   Gallizzi, Romina ^aa   Obici, Laura ^aa   Barone, Patrizia ^aa   Cimaz, Rolando ^aa   Alessio, Mariolina ^aa   Nishikomori, Ryuta ^aa   Stanevicha, Valda ^aa   Hoppenreijs, Esther ^aa   Wolska Kusnierz, Beata ^aa   Iagaru, Nicolae ^aa   Nikishina, Irina ^aa   Al Mayouf, Sulaiman M ^aa   Sewairi, ^aa   Susic, Gordana ^aa   Toplak, Natasa ^aa   Modesto, Consuelo ^aa   Elorduy, Maria Jesus Rua ^aa   Anton, Jordi ^aa   Bou, Rosa ^aa   more..

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c HACETTEPE UNIVERSITY   (Turkey)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e 'Arabkir' Medical Complex Institute of Child and Adolescent Health   (Armenia)

^f Section of Radiology   (France)

^g LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^h HUG   (Switzerland)

ⁱ UNIVERSITY OF SIENA   (Italy)

^j BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^k MEIR MEDICAL CENTER   (Israel)

^l CATHOLIC UNIVERSITY   (Italy)

^m UNIVERSITÉ PARIS DESCARTES   (France)

ⁿ GULHANE SCHOOL OF MEDICINE   (Turkey)

^o AARHUS UNIVERSITY HOSPITAL   (Denmark)

^p UNIVERSITY OF BRESCIA   (Italy)

^q FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^r CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^s UNIVERSITY OF TURIN   (Italy)

^t RAMBAM MEDICAL CENTER   (Israel)

^u SECOND UNIVERSITY OF NAPLES   (Italy)

^v UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^w RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^x ISTANBUL UNIVERSITY   (Turkey)

^y INSERM   (France)

^z UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^aa University Medical Center Utrecht ^*  (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CINCA SYNDROME; CLINICAL FEATURE; CONTROLLED STUDY; CRITERION VARIABLE; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE CLASSIFICATION; DISEASE REGISTRY; EUROFEVER CLASSIFICATION CRITERIA; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEVALONATE KINASE DEFICIENCY; MOLECULAR DIAGNOSIS; PFAPA SYNDROME; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; SCORING SYSTEM; SENSITIVITY AND SPECIFICITY; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; VALIDATION PROCESS; ADOLESCENT; CASE CONTROL STUDY; CHILD; CLASSIFICATION; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; EVIDENCE BASED MEDICINE; FEVER; HEREDITARY AUTOINFLAMMATORY DISEASES; INFANT; MIDDLE AGED; PRESCHOOL CHILD; REGISTER; YOUNG ADULT;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CRYOPYRIN-ASSOCIATED PERIODIC SYNDROMES; EVIDENCE-BASED MEDICINE; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEVER; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; INFANT; MALE; MEVALONATE KINASE DEFICIENCY; MIDDLE AGED; REGISTRIES; ROC CURVE; SENSITIVITY AND SPECIFICITY; YOUNG ADULT;

EID: 84926429995     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2014-206580     Document Type: Article

References (29)

1. ∗). Annu Rev Immunol 2009; 27:621-68.
2. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nature Genetics 1997; 17:25-31.
3. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90:797-807.
4. Drenth JP, Cuisset L, Grateau G., et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999; 22:178-81.
5. Houten SM, Kuis W, Duran M., et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nature Genetics 1999; 22:175-7.
6. van der Hilst JC, Bodar EJ, Barron K.S., 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; 87:301-10.
7. McDermott MF, Aksentijevich I, Galon J., 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; 97:133-44.
8. Hull KM, Drewe E, Aksentijevich I., et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002; 81:349-68.
9. Hoffman HM, Mueller JL, Broide D.H., et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001; 29:301-5.
10. Aksentijevich I, Putnam D, Remmers E.F., et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007; 56:1273-85.
11. Toplak N, Frenkel J, Ozen S., et al. An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis 2012; 71:1177-82.
12. Lachmann HJ, Papa R, Gerhold K., et al. 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 2014; 73: 2160-7.
13. Marshall GS, Edwards KM, Butler J, et al Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 1987; 110:43-6.
14. Shinar Y, Obici L, Aksentijevich I., et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis 2012; 71:1599-605.
15. Federici L, Rittore-Domingo C, Kone-Paut I, et al. A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis 2006; 65:1427-32.
16. Gattorno M, Sormani MP, D'Osualdo A, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 2008; 58:1823-32.
17. Simon A, van der Meer JWM, Vesely R, et al. Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. Rheumatology 2006; 45:269-73.
18. Livneh A, Langevitz P, Zemer D., et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40:1879-85.
19. Yalcinkaya F, Ozen S, Ozcakar Z.B., et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) 2009; 48:395-8.
20. Sohar E, Gafni J, Pras M., et al. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967; 43:227-53.
21. Hoffman HM, Wanderer AA, Broide DH Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 2001; 108:615-20.
22. Ter HN, Lachmann H, Ozen S., et al. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 2013; 72:678-85.
23. Milhavet F, Cuisset L, Hoffman H.M., et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat 2008; 29:803-8.
24. Thomas KT, Feder HM, Lawton A.R., et al. Periodic fever syndrome in children. J Pediatr 1999; 135:15-21.
25. Ravet N, Rouaghe S, Dode C., et al. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann Rheum Dis 2006; 65:1158-62.
26. Gattorno M, Caorsi R, Meini A., et al. Differentiating PFAPA syndrome from monogenic periodic fevers. Pediatrics 2009; 124:e721-8.
27. Ozen S, Pistorio A, Iusan S.M., et al. EULAR/PRINTO/PRES criteria for Henoch-Schonlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final classification criteria. Ann Rheum Dis 2010; 69:798-806.
28. Aksentijevich I, Kastner DL Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol 2011; 7:469-78.
29. Touitou I, Hentgen V, Kone-Paut I. Web resources for rare auto-inflammatory diseases: towards a common patient registry. Rheumatology (Oxford) 2009; 48:665-9.