- About this Journal
- Abstracting and Indexing
- Aims and Scope
- Annual Issues
- Article Processing Charges
- Articles in Press
- Author Guidelines
- Bibliographic Information
- Citations to this Journal
- Contact Information
- Editorial Board
- Editorial Workflow
- Free eTOC Alerts
- Publication Ethics
- Reviewers Acknowledgment
- Submit a Manuscript
- Subscription Information
- Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 501305, 8 pages
Clinical Genetic Testing of Periodic Fever Syndromes
1Laboratory of Immunopathology, Institute for Maternal and Child Health (IRCCS) “Burlo Garofolo”, 34137 Trieste, Italy
2Department of Medical Sciences, University of Trieste, 34100 Trieste, Italy
Received 25 October 2012; Accepted 12 December 2012
Academic Editor: Ozgur Cogulu
Copyright © 2013 Annalisa Marcuzzi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- I. Touitou and I. Koné-Paut, “Autoinflammatory diseases,” Best Practice and Research, vol. 22, no. 5, pp. 811–829, 2008.
- A. Soriano and R. Manna, “Familial Mediterranean fever: new phenotypes,” Autoimmunity Reviews, vol. 12, no. 1, pp. 31–37, 2012.
- L. Cantarini, O. M. Lucherini, B. Frediani, et al., “Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes,” International Journal of Immunopathology and Pharmacology, vol. 24, no. 4, pp. 827–836, 2011.
- P. J. Hashkes and O. Toker, “Autoinflammatory syndromes,” Pediatric Clinics of North America, vol. 59, no. 2, pp. 447–470, 2012.
- K. T. Thomas, H. M. Feder Jr., A. R. Lawton, and K. M. Edwards, “Periodic fever syndrome in children,” Journal of Pediatrics, vol. 135, no. 1, pp. 15–21, 1999.
- S. Padeh, “Periodic fever syndromes,” Pediatric Clinics of North America, vol. 52, no. 2, pp. 577–609, 2005.
- M. Piram, J. Frenkel, M. Gattorno et al., “A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) consensus conference,” Annals of the Rheumatic Diseases, vol. 70, no. 2, pp. 309–314, 2011.
- N. Toplak, J. Frenkel, S. Ozen, et al., “An international registry on autoinflammatory diseases: the Eurofever experience,” Annals of the Rheumatic Diseases, vol. 71, no. 7, pp. 1177–1182, 2012.
- S. Savic, L. J. Dickie, M. Wittmann, and M. F. McDermott, “Autoinflammatory syndromes and cellular responses to stress: pathophysiology, diagnosis and new treatment perspectives,” Best Practice & Research Clinical Rheumatology, vol. 26, no. 4, pp. 505–533, 2012.
- L. J. Dickie, S. Savic, A. Aziz, M. Sprakes, and M. F. McDermott, “Periodic fever syndrome and autoinflammatory diseases,” F1000 Medicine Reports, vol. 2, no. 1, article 3, 2010.
- M. Gattorno, R. Caorsi, A. Meini et al., “Differentiating PFAPA syndrome from monogenic periodic fevers,” Pediatrics, vol. 124, no. 4, pp. e721–e728, 2009.
- E. Ben-Chetrit and I. Touitou, “Familial mediterranean fever in the world,” Arthritis Care and Research, vol. 61, no. 10, pp. 1447–1453, 2009.
- E. Ben-Chetrit and M. Levy, “Familial Mediterranean fever,” The Lancet, vol. 351, no. 9103, pp. 659–664, 1998.
- H. J. Lachmann, “Clinical immunology review series: an approach to the patient with a periodic fever syndrome,” Clinical and Experimental Immunology, vol. 165, no. 3, pp. 301–309, 2011.
- M. Sayarlioglu, A. Cefle, M. Inanc et al., “Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases,” International Journal of Clinical Practice, vol. 59, no. 2, pp. 202–205, 2005.
- I. Muscari, F. Iacoponi, L. Cantarini, et al., “The diagnostic evaluation of patients with potential adult-onset autoinflammatory disorders: our experience and review of the literature,” Autoimmunity Reviews, vol. 12, no. 1, pp. 10–13, 2012.
- L. Cantarini, F. Iacoponi, O. M. Lucherini, et al., “Validation of a diagnostic score for the diagnosis of autoinflammatory diseases in adults,” International Journal of Immunopathology and Pharmacology, vol. 24, no. 3, pp. 695–702, 2011.
- D. L. Kastner, “Familial mediterranean fever: the genetics of inflammation,” Hospital Practice, vol. 33, no. 4, pp. 131–134, 139–140, 143–146, 1998.
- I. Touitou, T. Sarkisian, M. Medlej-Hashim et al., “Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever,” Arthritis & Rheumatism, vol. 56, no. 5, pp. 1706–1712, 2007.
- M. La Regina, G. Nucera, M. Diaco et al., “Familial Mediterranean fever is no longer a rare disease in Italy,” European Journal of Human Genetics, vol. 11, no. 1, pp. 50–56, 2003.
- J. C. H. van der Hilst, A. Simon, and J. P. H. Drenth, “Hereditary periodic fever and reactive amyloidosis,” Clinical and Experimental Medicine, vol. 5, no. 3, pp. 87–98, 2005.
- M. Lidar, J. M. Scherrmann, Y. Shinar et al., “Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization,” Seminars in Arthritis and Rheumatism, vol. 33, no. 4, pp. 273–282, 2004.
- G. Guz, M. Kanbay, and M. A. Ozturk, “Current perspectives on familial mediterranean fever,” Current Opinion in Infectious Diseases, vol. 22, no. 3, pp. 309–315, 2009.
- R. Caorsi, S. Federici, and M. Gattorno, “Biologic drugs in autoinflammatory syndromes,” Autoimmunity Reviews, vol. 12, no. 1, pp. 81–86, 2012.
- J. W. M. van der Meer, J. M. Vossen, and J. Radl, “Hyperimmunoglobulinemia D and periodic fever: a new syndrome,” The Lancet, vol. 1, no. 8386, pp. 1087–1090, 1984.
- J. P. H. Drenth, C. J. Haagsma, J. W. M. van der Meer et al., “Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients,” Medicine, vol. 73, no. 3, pp. 133–144, 1994.
- M. Cailliez, F. Garaix, C. Rousset-Rouvière et al., “Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis,” Journal of Inherited Metabolic Disease, vol. 29, no. 6, p. 763, 2006.
- J. C. H. van der Hilst, E. J. Bodar, K. S. Barron et al., “Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome,” Medicine, vol. 87, no. 6, pp. 301–310, 2008.
- A. Marcuzzi, E. Piscianz, M. Girardelli, S. Crovella, and A. Pontillo, “Defect in mevalonate pathway induces pyroptosis in Raw 264.7 murine monocytes,” Apoptosis, vol. 16, no. 9, pp. 882–888, 2011.
- A. Marcuzzi, V. Zanin, E. Piscianz, et al., “Lovastatin-induced apoptosis is modulated by geranylgeraniol in a neuroblastoma cell line,” International Journal of Developmental Neuroscience, vol. 30, no. 6, pp. 451–456, 2012.
- L. M. Williamson, D. Hull, R. Mehta, W. G. Reeves, B. H. Robinson, and P. J. Toghill, “Familial hibernian fever,” The Quarterly Journal of Medicine, vol. 51, no. 204, pp. 469–480, 1982.
- M. F. McDermott, I. Aksentijevich, J. Galon et al., “Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes,” Cell, vol. 97, no. 1, pp. 133–144, 1999.
- J. R. Toro, I. Aksentijevich, K. Hull, J. Dean, and D. L. Kastner, “Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations,” Archives of Dermatology, vol. 136, no. 12, pp. 1487–1494, 2000.
- V. J. Derbes and W. P. Coleman, “Familial cold urticaria,” Annals of Allergy, vol. 30, no. 6, pp. 335–341, 1972.
- H. M. Hoffman, J. L. Mueller, D. H. Broide, A. A. Wanderer, and R. D. Kolodner, “Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome,” Nature Genetics, vol. 29, no. 3, pp. 301–305, 2001.
- J. Feldmann, A. M. Prieur, P. Quartier et al., “Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes,” American Journal of Human Genetics, vol. 71, no. 1, pp. 198–203, 2002.
- I. Jéru, P. Duquesnoy, T. Fernandes-Alnemri et al., “Mutations in NALP12 cause hereditary periodic fever syndromes,” Proceedings of the National Academy of Sciences of the United States of America, vol. 105, no. 5, pp. 1614–1619, 2008.
- H. M. Doeglas and E. Bleumink, “Familial cold urticaria. Clinical findings,” Archives of Dermatology, vol. 110, no. 3, pp. 382–388, 1974.
- H. M. Hoffman, A. A. Wanderer, and D. H. Broide, “Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever,” Journal of Allergy and Clinical Immunology, vol. 108, no. 4, pp. 615–620, 2001.
- K. L. Williams, J. D. Lich, J. A. Duncan et al., “The CATERPILLER protein Monarch-1 is an antagonist of toll-like receptor-, tumor necrosis factor α-, and Mycobacterium tuberculosis-induced pro-inflammatory signals,” Journal of Biological Chemistry, vol. 280, no. 48, pp. 39914–39924, 2005.
- S. L. Masters, A. Simon, I. Aksentijevich, and D. L. Kastner, “Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease,” Annual Review of Immunology, vol. 27, pp. 621–668, 2009.
- S. Borghini, S. Tassi, S. Chiesa et al., “Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation,” Arthritis & Rheumatism, vol. 63, no. 3, pp. 830–839, 2011.
- G. S. Marshall, K. M. Edwards, J. Butler, and A. R. Lawton, “Syndrome of periodic fever, pharyngitis, and aphthous stomatitis,” Journal of Pediatrics, vol. 110, no. 1, pp. 43–46, 1987.
- S. Peridis, G. Pilgrim, E. Koudoumnakis, I. Athanasopoulos, M. Houlakis, and K. Parpounas, “PFAPA syndrome in children: a meta-analysis on surgical versus medical treatment,” International Journal of Pediatric Otorhinolaryngology, vol. 74, no. 11, pp. 1203–1208, 2010.
- G. Vigo and F. Zulian, “Periodic fevers with aphthous stomatitis, pharyngitis, and adenitis (PFAPA),” Autoimmunity Reviews, vol. 12, no. 1, pp. 52–55, 2012.
- W. Garavello, M. Romagnoli, and R. M. Gaini, “Effectiveness of adenotonsillectomy in PFAPA syndrome: a randomized study,” Journal of Pediatrics, vol. 155, no. 2, pp. 250–253, 2009.
- F. S. Sutterwala, Y. Ogura, M. Szczepanik et al., “Critical role for NALP3/CIAS1/cryopyrin in innate and adaptive immunity through its regulation of caspase-1,” Immunity, vol. 24, no. 3, pp. 317–327, 2006.
- M. Saito, R. Nishikomori, N. Kambe et al., “Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients,” Blood, vol. 111, no. 4, pp. 2132–2141, 2008.
- J. W. Yu, J. Wu, Z. Zhang et al., “Cryopyrin and pyrin activate caspase-1, but not NF-κB, via ASC oligomerization,” Cell Death and Differentiation, vol. 13, no. 2, pp. 236–249, 2006.
- E. Mansfield, J. J. Chae, H. D. Komarow et al., “The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments,” Blood, vol. 98, no. 3, pp. 851–859, 2001.
- A. Marcuzzi, S. Crovella, L. Monasta, L. V. Brumatti, M. Gattorno, and J. Frenkel, “Mevalonate kinase deficiency: disclosing the role of mevalonate pathway modulation in inflammation,” Current Pharmaceutical Design, vol. 18, no. 35, pp. 5746–5752, 2012.
- V. Zanin, A. Marcuzzi, E. Piscianz, et al., “The effect of clodronate on a mevalonate kinase deficiency cellular model,” Inflammation Research, vol. 61, no. 12, pp. 1363–1367, 2012.
- K. M. Hull, E. Drewe, I. Aksentijevich et al., “The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder,” Medicine, vol. 81, no. 5, pp. 349–368, 2002.
- P. Anton-Martin, R. O. Movilla, S. G. Martin, et al., “PFAPA syndrome in siblings. Is there a genetic background?” European Journal of Pediatrics, vol. 170, no. 12, pp. 1563–1568, 2011.
- L. Kolly, N. Busso, A. von Scheven-Gete, et al., “Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1beta production,” The Journal of Allergy and Clinical Immunology. In press.
- A. D'Osualdo, P. Picco, F. Caroli et al., “MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever,” European Journal of Human Genetics, vol. 13, no. 3, pp. 314–320, 2005.
- A. D'Osualdo, F. Ferlito, I. Prigione et al., “Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications,” Arthritis & Rheumatism, vol. 54, no. 3, pp. 998–1008, 2006.
- M. Gattorno, M. P. Sormani, A. D'Osualdo et al., “A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children,” Arthritis & Rheumatism, vol. 58, no. 6, pp. 1823–1832, 2008.
- L. Federici, C. Rittore-Domingo, I. Koné-Paut et al., “A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients,” Annals of the Rheumatic Diseases, vol. 65, no. 11, pp. 1427–1432, 2006.
- E. Lainka, U. Neudorf, P. Lohse et al., “Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population,” European Journal of Pedaitrics, vol. 171, no. 12, pp. 1775–1785, 2012.
- D. Tchernitchko, S. Moutereau, M. Legendre et al., “MEFV analysis is of particularly weak diagnostic value for recurrent fevers in western European Caucasian patients,” Arthritis & Rheumatism, vol. 52, no. 11, pp. 3603–3605, 2005.
- K. Krause, C. E. Grattan, C. Bindslev-Jensen, et al., “How not to miss autoinflammatory diseases masquerading as urticaria,” Allergy, vol. 67, no. 12, pp. 1465–1474, 2012.
- B. Bortot, E. Athanasakis, F. Brun, et al., “High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy,” Diagnostic Molecular Pathology, vol. 20, no. 3, pp. 175–179, 2011.
- T. J. Dixon-Salazar, J. L. Silhavy, N. Udpa, et al., “Exome sequencing can improve diagnosis and alter patient management,” Science Translational Medicine, vol. 4, no. 138, Article ID 138ra178, 2012.
- A. Altmann, P. Weber, D. Bader, M. Preuss, E. B. Binder, and B. Muller-Myhsok, “A beginners guide to SNP calling from high-throughput DNA-sequencing data,” Human Genetics, vol. 131, no. 10, pp. 1541–1554, 2012.
- P. Kothiyal, S. Cox, J. Ebert, B. J. Aronow, J. H. Greinwald, and H. L. Rehm, “An overview of custom array sequencing,” in Current Protocols in Human Genetics, Unit 7, chapter 7, p. 17, 2009.
- Q. Zhou, G. S. Lee, J. Brady, et al., “A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency,” American Journal of Human Genetics, vol. 91, no. 4, pp. 713–720, 2012.
- R. Thompson, C. J. Drew, and R. H. Thomas, “Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges,” Advances in Protein Chemistry and Structural Biology, vol. 89, pp. 27–63, 2012.