Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives
Abstract
:1. Introduction
2. TRAPS Genetics
3. Pathophysiology in TRAPS
4. Clinical and Laboratory Features in TRAPS Patients
5. TRAPS Diagnosis
6. TRAPS Treatment
7. Conclusions
Funding
Conflicts of Interest
References
- McDermott, M.F.; Aksentijevich, I.; Galon, J.; McDermott, E.M.; Ogunkolade, B.W.; Centola, M.; Mansfield, E.; Gadina, M.; Karenko, L.; Pettersson, T.; 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. [Google Scholar] [CrossRef]
- Beck, D.B.; Aksentijevich, I. Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease. Front. Immunol. 2019, 10, 101. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Savic, S.; Caseley, E.A.; McDermott, M.F. Moving towards a systems-based classification of innate immune-mediated diseases. Nat. Rev. Rheumatol. 2020, 16, 222–237. [Google Scholar] [CrossRef] [PubMed]
- Manthiram, K.; Zhou, Q.; Aksentijevich, I.; Kastner, D.L. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat. Immunol. 2017, 18, 832–842. [Google Scholar] [CrossRef] [PubMed]
- Williamson, L.M.; Hull, D.; Mehta, R.; Reeves, W.G.; Robinson, B.H.; Toghill, P.J. Familial Hibernian fever. QJM Int. J. Med. 1982, 51, 469–480. [Google Scholar]
- Lachmann, H.J.; Papa, R.; Gerhold, K.; Obici, L.; Touitou, I.; Cantarini, L.; Frenkel, J.; Anton, J.; Kone-Paut, I.; Cattalini, M.; 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, 2160–2167. [Google Scholar] [CrossRef]
- Aksentijevich, I.; Galon, J.; Soares, M.; Mansfield, E.; Hull, K.; Oh, H.H.; Goldbach-Mansky, R.; Dean, J.; Athreya, B.; Reginato, A.J.; 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. [Google Scholar] [CrossRef] [Green Version]
- Croft, M.; Siegel, R.M. Beyond TNF: TNF superfamily cytokines as targets for the treatment of rheumatic diseases. Nat. Rev. Rheumatol. 2017, 13, 217–233. [Google Scholar] [CrossRef] [Green Version]
- UniProt, C. UniProt: A worldwide hub of protein knowledge. Nucleic Acids Res. 2019, 47, D506–D515. [Google Scholar] [CrossRef] [Green Version]
- Banner, D.W.; D’Arcy, A.; Janes, W.; Gentz, R.; Schoenfeld, H.J.; Broger, C.; Loetscher, H.; Lesslauer, W. Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: Implications for TNF receptor activation. Cell 1993, 73, 431–445. [Google Scholar] [CrossRef]
- Cui, X.; Hawari, F.; Alsaaty, S.; Lawrence, M.; Combs, C.A.; Geng, W.; Rouhani, F.N.; Miskinis, D.; Levine, S.J. Identification of ARTS-1 as a novel TNFR1-binding protein that promotes TNFR1 ectodomain shedding. J. Clin. Investig. 2002, 110, 515–526. [Google Scholar] [CrossRef] [PubMed]
- Bodmer, J.L.; Schneider, P.; Tschopp, J. The molecular architecture of the TNF superfamily. Trends Biochem. Sci. 2002, 27, 19–26. [Google Scholar] [CrossRef] [Green Version]
- Sarrauste de Menthiere, C.; Terriere, S.; Pugnere, D.; Ruiz, M.; Demaille, J.; Touitou, I. INFEVERS: The Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res. 2003, 31, 282–285. [Google Scholar] [CrossRef] [PubMed]
- Van Gijn, M.E.; Ceccherini, I.; Shinar, Y.; Carbo, E.C.; Slofstra, M.; Arostegui, J.I.; Sarrabay, G.; Rowczenio, D.; Omoyimni, E.; Balci-Peynircioglu, B.; et al. New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). J. Med. Genet. 2018, 55, 530–537. [Google Scholar] [CrossRef]
- Rebelo, S.L.; Bainbridge, S.E.; Amel-Kashipaz, M.R.; Radford, P.M.; Powell, R.J.; Todd, I.; Tighe, P.J. 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. 2006, 54, 2674–2687. [Google Scholar] [CrossRef]
- Churchman, S.M.; Church, L.D.; Savic, S.; Coulthard, L.R.; Hayward, B.; Nedjai, B.; Turner, M.D.; Mathews, R.J.; Baguley, E.; Hitman, G.A.; et al. A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann. Rheum. Dis. 2008, 67, 1589–1595. [Google Scholar] [CrossRef]
- Lobito, A.A.; Kimberley, F.C.; Muppidi, J.R.; Komarow, H.; Jackson, A.J.; Hull, K.M.; Kastner, D.L.; Screaton, G.R.; Siegel, R.M. Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). Blood 2006, 108, 1320–1327. [Google Scholar] [CrossRef] [Green Version]
- Ravet, N.; Rouaghe, S.; Dode, C.; Bienvenu, J.; Stirnemann, J.; Levy, P.; Delpech, M.; Grateau, G. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann. Rheum. Dis. 2006, 65, 1158–1162. [Google Scholar] [CrossRef] [Green Version]
- Simon, A.; Park, H.; Maddipati, R.; Lobito, A.A.; Bulua, A.C.; Jackson, A.J.; Chae, J.J.; Ettinger, R.; de Koning, H.D.; Cruz, A.C.; et al. Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proc. Natl. Acad. Sci. USA 2010, 107, 9801–9806. [Google Scholar] [CrossRef] [Green Version]
- Pelagatti, M.A.; Meini, A.; Caorsi, R.; Cattalini, M.; Federici, S.; Zulian, F.; Calcagno, G.; Tommasini, A.; Bossi, G.; Sormani, M.P.; et al. Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis Rheum. 2011, 63, 1141–1150. [Google Scholar] [CrossRef] [Green Version]
- Ruiz-Ortiz, E.; Iglesias, E.; Soriano, A.; Bujan-Rivas, S.; Espanol-Rego, M.; Castellanos-Moreira, R.; Tome, A.; Yague, J.; Anton, J.; Hernandez-Rodriguez, J. Disease Phenotype and Outcome Depending on the Age at Disease Onset in Patients Carrying the R92Q Low-Penetrance Variant in TNFRSF1A Gene. Front. Immunol. 2017, 8, 299. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Ueda, N.; Ida, H.; Washio, M.; Miyahara, H.; Tokunaga, S.; Tanaka, F.; Takahashi, H.; Kusuhara, K.; Ohmura, K.; Nakayama, M.; et al. Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey. Arthritis Rheumatol. 2016, 68, 2760–2771. [Google Scholar] [CrossRef] [PubMed]
- Cantarini, L.; Rigante, D.; Merlini, G.; Vitale, A.; Caso, F.; Lucherini, O.M.; Sfriso, P.; Frediani, B.; Punzi, L.; Galeazzi, M.; et al. 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. 2014, 43, 818–823. [Google Scholar] [CrossRef] [PubMed]
- Hoffman, H.M.; Broderick, L. Editorial: It Just Takes One: Somatic Mosaicism in Autoinflammatory Disease. Arthritis Rheumatol. 2017, 69, 253–256. [Google Scholar] [CrossRef] [PubMed]
- Rowczenio, D.M.; Trojer, H.; Omoyinmi, E.; Arostegui, J.I.; Arakelov, G.; Mensa-Vilaro, A.; Baginska, A.; Silva Pilorz, C.; Wang, G.; Lane, T.; et al. Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion. Arthritis Rheumatol. 2016, 68, 2044–2049. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Kontzias, A.; Zarabi, S.K.; Calabrese, C.; Wang, Y.; Judis, L.; Yao, Q.; Cheng, Y.W. Somatic mosaicism in adult-onset TNF receptor-associated periodic syndrome (TRAPS). Mol. Genet. Genom. Med. 2019, 7, e791. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Huggins, M.L.; Radford, P.M.; McIntosh, R.S.; Bainbridge, S.E.; Dickinson, P.; Draper-Morgan, K.A.; Tighe, P.J.; Powell, R.J.; Todd, I. Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: Differences between cell types. Arthritis Rheum. 2004, 50, 2651–2659. [Google Scholar] [CrossRef]
- Yousaf, N.; Gould, D.J.; Aganna, E.; Hammond, L.; Mirakian, R.M.; Turner, M.D.; Hitman, G.A.; McDermott, M.F.; Chernajovsky, Y. Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-kappaB activation. Arthritis Rheum. 2005, 52, 2906–2916. [Google Scholar] [CrossRef]
- Kimberley, F.C.; Lobito, A.A.; Siegel, R.M.; Screaton, G.R. Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. Arthritis Res. 2007, 9, 217. [Google Scholar] [CrossRef] [Green Version]
- Yang, Q.; Kim, Y.S.; Lin, Y.; Lewis, J.; Neckers, L.; Liu, Z.G. Tumour necrosis factor receptor 1 mediates endoplasmic reticulum stress-induced activation of the MAP kinase JNK. EMBO Rep. 2006, 7, 622–627. [Google Scholar] [CrossRef] [Green Version]
- Pelletier, M.; Lepow, T.S.; Billingham, L.K.; Murphy, M.P.; Siegel, R.M. New tricks from an old dog: Mitochondrial redox signaling in cellular inflammation. Semin. Immunol. 2012, 24, 384–392. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Bulua, A.C.; Simon, A.; Maddipati, R.; Pelletier, M.; Park, H.; Kim, K.Y.; Sack, M.N.; Kastner, D.L.; Siegel, R.M. Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). J. Exp. Med. 2011, 208, 519–533. [Google Scholar] [CrossRef] [PubMed]
- Walter, P.; Ron, D. The unfolded protein response: From stress pathway to homeostatic regulation. Science 2011, 334, 1081–1086. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Wu, J.; Kaufman, R.J. From acute ER stress to physiological roles of the Unfolded Protein Response. Cell Death Differ. 2006, 13, 374–384. [Google Scholar] [CrossRef]
- Bravo, R.; Parra, V.; Gatica, D.; Rodriguez, A.E.; Torrealba, N.; Paredes, F.; Wang, Z.V.; Zorzano, A.; Hill, J.A.; Jaimovich, E.; et al. Endoplasmic reticulum and the unfolded protein response: Dynamics and metabolic integration. Int. Rev. Cell Mol. Biol. 2013, 301, 215–290. [Google Scholar] [CrossRef] [Green Version]
- Dickie, L.J.; Aziz, A.M.; Savic, S.; Lucherini, O.M.; Cantarini, L.; Geiler, J.; Wong, C.H.; Coughlan, R.; Lane, T.; Lachmann, H.J.; et al. 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. 2012, 71, 2035–2043. [Google Scholar] [CrossRef]
- Martinon, F.; Chen, X.; Lee, A.H.; Glimcher, L.H. TLR activation of the transcription factor XBP1 regulates innate immune responses in macrophages. Nat. Immunol. 2010, 11, 411–418. [Google Scholar] [CrossRef]
- Bachetti, T.; Chiesa, S.; Castagnola, P.; Bani, D.; Di Zanni, E.; Omenetti, A.; D’Osualdo, A.; Fraldi, A.; Ballabio, A.; Ravazzolo, R.; et al. Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS). Ann. Rheum. Dis. 2013, 72, 1044–1052. [Google Scholar] [CrossRef]
- Nedjai, B.; Hitman, G.A.; Yousaf, N.; Chernajovsky, Y.; Stjernberg-Salmela, S.; Pettersson, T.; Ranki, A.; Hawkins, P.N.; Arkwright, P.D.; McDermott, M.F.; et al. Abnormal tumor necrosis factor receptor I cell surface expression and NF-kappaB activation in tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008, 58, 273–283. [Google Scholar] [CrossRef]
- Tsuji, S.; Matsuzaki, H.; Iseki, M.; Nagasu, A.; Hirano, H.; Ishihara, K.; Ueda, N.; Honda, Y.; Horiuchi, T.; Nishikomori, R.; et al. Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome. Clin. Exp. Immunol. 2019, 198, 416–429. [Google Scholar] [CrossRef]
- Negm, O.H.; Singh, S.; Abduljabbar, W.; Hamed, M.R.; Radford, P.; McDermott, E.M.; Drewe, E.; Fairclough, L.; Todd, I.; Tighe, P.J. Patients with tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) are hypersensitive to Toll-like receptor 9 stimulation. Clin. Exp. Immunol. 2019, 197, 352–360. [Google Scholar] [CrossRef] [PubMed]
- Dinarello, C.A.; van der Meer, J.W. Treating inflammation by blocking interleukin-1 in humans. Semin. Immunol. 2013, 25, 469–484. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Borghini, S.; Ferrera, D.; Prigione, I.; Fiore, M.; Ferraris, C.; Mirisola, V.; Amaro, A.A.; Gueli, I.; Zammataro, L.; Gattorno, M.; et al. Gene expression profile in TNF receptor-associated periodic syndrome reveals constitutively enhanced pathways and new players in the underlying inflammation. Clin. Exp. Rheumatol. 2016, 34, S121–S128. [Google Scholar] [PubMed]
- Torene, R.; Nirmala, N.; Obici, L.; Cattalini, M.; Tormey, V.; Caorsi, R.; Starck-Schwertz, S.; Letzkus, M.; Hartmann, N.; Abrams, K.; et al. Canakinumab reverses overexpression of inflammatory response genes in tumour necrosis factor receptor-associated periodic syndrome. Ann. Rheum. Dis. 2017, 76, 303–309. [Google Scholar] [CrossRef]
- Bartel, D.P. MicroRNAs: Genomics, biogenesis, mechanism, and function. Cell 2004, 116, 281–297. [Google Scholar] [CrossRef] [Green Version]
- Koroleva, I.A.; Nazarenko, M.S.; Kucher, A.N. Role of microRNA in Development of Instability of Atherosclerotic Plaques. Biochemistry (Moscow) 2017, 82, 1380–1390. [Google Scholar] [CrossRef]
- Vishnoi, A.; Rani, S. MiRNA Biogenesis and Regulation of Diseases: An Overview. Methods Mol. Biol. 2017, 1509, 1–10. [Google Scholar] [CrossRef]
- Lucherini, O.M.; Obici, L.; Ferracin, M.; Fulci, V.; McDermott, M.F.; Merlini, G.; Muscari, I.; Magnotti, F.; Dickie, L.J.; Galeazzi, M.; et al. First report of circulating microRNAs in tumour necrosis factor receptor-associated periodic syndrome (TRAPS). PLoS ONE 2013, 8, e73443. [Google Scholar] [CrossRef]
- Harrison, S.R.; Scambler, T.; Oubussad, L.; Wong, C.; Wittmann, M.; McDermott, M.F.; Savic, S. Inositol-Requiring Enzyme 1-Mediated Downregulation of MicroRNA (miR)-146a and miR-155 in Primary Dermal Fibroblasts across Three TNFRSF1A Mutations Results in Hyperresponsiveness to Lipopolysaccharide. Front. Immunol. 2018, 9, 173. [Google Scholar] [CrossRef] [Green Version]
- Bluher, M. Adipokines—Removing road blocks to obesity and diabetes therapy. Mol. Metab. 2014, 3, 230–240. [Google Scholar] [CrossRef]
- Cantarini, L.; Obici, L.; Simonini, G.; Cimaz, R.; Bacarelli, M.R.; Merlini, G.; Vitale, A.; Lucherini, O.M.; Brizi, M.G.; Galeazzi, M.; et al. Serum leptin, resistin, visfatin and adiponectin levels in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Clin. Exp. Rheumatol. 2012, 30, S108–S114. [Google Scholar] [CrossRef] [PubMed]
- Li, L.; Yang, G.; Shi, S.; Yang, M.; Liu, H.; Boden, G. The adipose triglyceride lipase, adiponectin and visfatin are downregulated by tumor necrosis factor-alpha (TNF-alpha) in vivo. Cytokine 2009, 45, 12–19. [Google Scholar] [CrossRef] [PubMed]
- La Cava, A.; Matarese, G. The weight of leptin in immunity. Nat. Rev. Immunol. 2004, 4, 371–379. [Google Scholar] [CrossRef] [PubMed]
- Pucino, V.; Lucherini, O.M.; Perna, F.; Obici, L.; Merlini, G.; Cattalini, M.; La Torre, F.; Maggio, M.C.; Lepore, M.T.; Magnotti, F.; et al. Differential impact of high and low penetrance TNFRSF1A gene mutations on conventional and regulatory CD4+ T cell functions in TNFR1-associated periodic syndrome. J. Leukoc. Biol. 2016, 99, 761–769. [Google Scholar] [CrossRef]
- Todd, I.; Radford, P.M.; Daffa, N.; Bainbridge, S.E.; Powell, R.J.; Tighe, P.J. Mutant tumor necrosis factor receptor associated with tumor necrosis factor receptor-associated periodic syndrome is altered antigenically and is retained within patients’ leukocytes. Arthritis Rheum. 2007, 56, 2765–2773. [Google Scholar] [CrossRef]
- Aganna, E.; Hammond, L.; Hawkins, P.N.; Aldea, A.; McKee, S.A.; van Amstel, H.K.; Mischung, C.; Kusuhara, K.; Saulsbury, F.T.; Lachmann, H.J.; et al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum. 2003, 48, 2632–2644. [Google Scholar] [CrossRef]
- Hull, K.M.; Drewe, E.; Aksentijevich, I.; Singh, H.K.; Wong, K.; McDermott, E.M.; Dean, J.; Powell, R.J.; Kastner, D.L. The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder. Medicine 2002, 81, 349–368. [Google Scholar] [CrossRef]
- Lachmann, H.J. Periodic fever syndromes. Best Pr. Res. Clin. Rheumatol. 2017, 31, 596–609. [Google Scholar] [CrossRef]
- Pettersson, T.; Kantonen, J.; Matikainen, S.; Repo, H. Setting up TRAPS. Ann. Med. 2012, 44, 109–118. [Google Scholar] [CrossRef]
- Rezaei, N. TNF-receptor-associated periodic syndrome (TRAPS): An autosomal dominant multisystem disorder. Clin. Rheumatol. 2006, 25, 773–777. [Google Scholar] [CrossRef]
- Nezos, A.; Argyropoulou, O.D.; Klinaki, E.; Marketos, N.; Karagianni, P.; Eliopoulos, E.; Vlachoyiannopoulos, P.; Maritsi, D.N.; Tzioufas, A.G. Molecular and clinical spectrum of four pedigrees of TRAPS in Greece: Results from a national referral center. Rheumatology 2019. [Google Scholar] [CrossRef] [PubMed]
- Zhao, M.; Luo, Y.; Wu, D.; Yang, Y.; Sun, Y.; Wang, R.; Shen, M. Clinical and genetic features of Chinese adult patients with tumour necrosis factor receptor-associated periodic fever syndrome. Rheumatology 2019. [Google Scholar] [CrossRef] [PubMed]
- Jesus, A.A.; Fujihira, E.; Watase, M.; Terreri, M.T.; Hilario, M.O.; Carneiro-Sampaio, M.; Len, C.A.; Oliveira, S.K.; Rodrigues, M.C.; Pereira, R.M.; et al. Hereditary autoinflammatory syndromes: A Brazilian multicenter study. J. Clin. Immunol. 2012, 32, 922–932. [Google Scholar] [CrossRef] [PubMed]
- Cantarini, L.; Lucherini, O.M.; Cimaz, R.; Baldari, C.T.; Bellisai, F.; Rossi Paccani, S.; Laghi Pasini, F.; Capecchi, P.L.; Sebastiani, G.D.; Galeazzi, M. Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. Int. J. Immunopathol. Pharm. 2009, 22, 1051–1058. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Cantarini, L.; Lucherini, O.M.; Vitale, A.; Sabadini, L.; Brizi, M.G.; Frediani, B.; Muscari, I.; Galeazzi, M. Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis. Intern. Med. J. 2013, 43, 725–727. [Google Scholar] [CrossRef]
- Rigante, D.; Cantarini, L.; Imazio, M.; Lucherini, O.M.; Sacco, E.; Galeazzi, M.; Brizi, M.G.; Brucato, A. Autoinflammatory diseases and cardiovascular manifestations. Ann. Med. 2011, 43, 341–346. [Google Scholar] [CrossRef] [PubMed]
- Schmaltz, R.; Vogt, T.; Reichrath, J. Skin manifestations in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Dermato Endocrinol. 2010, 2, 26–29. [Google Scholar] [CrossRef] [Green Version]
- Toro, J.R.; Aksentijevich, I.; Hull, K.; Dean, J.; Kastner, D.L. Tumor necrosis factor receptor-associated periodic syndrome: A novel syndrome with cutaneous manifestations. Arch. Derm. 2000, 136, 1487–1494. [Google Scholar] [CrossRef] [Green Version]
- Rigante, D.; Capoluongo, E. The plodding diagnosis of monogenic autoinflammatory diseases in childhood: From the clinical scenery to laboratory investigation. Clin. Chem. Lab. Med. 2011, 49, 783–791. [Google Scholar] [CrossRef]
- Piram, M.; Frenkel, J.; Gattorno, M.; Ozen, S.; Lachmann, H.J.; Goldbach-Mansky, R.; Hentgen, V.; Neven, B.; Stojanovic, K.S.; Simon, A.; 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. Ann. Rheum. Dis. 2011, 70, 309–314. [Google Scholar] [CrossRef] [Green Version]
- Federici, S.; Sormani, M.P.; Ozen, S.; Lachmann, H.J.; Amaryan, G.; Woo, P.; Kone-Paut, I.; Dewarrat, N.; Cantarini, L.; Insalaco, A.; et al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann. Rheum. Dis. 2015, 74, 799–805. [Google Scholar] [CrossRef] [PubMed]
- Gattorno, M.; Hofer, M.; Federici, S.; Vanoni, F.; Bovis, F.; Aksentijevich, I.; Anton, J.; Arostegui, J.I.; Barron, K.; Ben-Cherit, E.; et al. Classification criteria for autoinflammatory recurrent fevers. Ann. Rheum. Dis. 2019, 78, 1025–1032. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Arostegui, J.I.; Solis, P.; Aldea, A.; Cantero, T.; Rius, J.; Bahillo, P.; Plaza, S.; Vives, J.; Gomez, S.; Yague, J. Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response. Eur. J. Pediatr. 2005, 164, 13–16. [Google Scholar] [CrossRef] [PubMed]
- Cantarini, L.; Rigante, D.; Lucherini, O.M.; Cimaz, R.; Laghi Pasini, F.; Baldari, C.T.; Benucci, M.; Simonini, G.; Di Sabatino, V.; Brizi, M.G.; et al. Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: Personal experience and review of the literature. Int. J. Immunopathol. Pharm. 2010, 23, 701–707. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Bulua, A.C.; Mogul, D.B.; Aksentijevich, I.; Singh, H.; He, D.Y.; Muenz, L.R.; Ward, M.M.; Yarboro, C.H.; Kastner, D.L.; Siegel, R.M.; et al. Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: A prospective, open-label, dose-escalation study. Arthritis Rheum. 2012, 64, 908–913. [Google Scholar] [CrossRef]
- Drewe, E.; McDermott, E.M.; Powell, P.T.; Isaacs, J.D.; Powell, R.J. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): Clinical and laboratory findings in a series of seven patients. Rheumatology 2003, 42, 235–239. [Google Scholar] [CrossRef] [Green Version]
- Stojanov, S.; Dejaco, C.; Lohse, P.; Huss, K.; Duftner, C.; Belohradsky, B.H.; Herold, M.; Schirmer, M. Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. Ann. Rheum. Dis. 2008, 67, 1292–1298. [Google Scholar] [CrossRef] [Green Version]
- Drewe, E.; Huggins, M.L.; Morgan, A.G.; Cassidy, M.J.; Powell, R.J. Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome. Rheumatology 2004, 43, 1405–1408. [Google Scholar] [CrossRef] [Green Version]
- Ter Haar, N.; Lachmann, H.; Ozen, S.; Woo, P.; Uziel, Y.; Modesto, C.; Kone-Paut, I.; Cantarini, L.; Insalaco, A.; Neven, B.; et al. Treatment of autoinflammatory diseases: Results from the Eurofever Registry and a literature review. Ann. Rheum. Dis. 2013, 72, 678–685. [Google Scholar] [CrossRef]
- Nedjai, B.; Hitman, G.A.; Quillinan, N.; Coughlan, R.J.; Church, L.; McDermott, M.F.; Turner, M.D. Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2009, 60, 619–625. [Google Scholar] [CrossRef]
- Kaymakcalan, Z.; Sakorafas, P.; Bose, S.; Scesney, S.; Xiong, L.; Hanzatian, D.K.; Salfeld, J.; Sasso, E.H. Comparisons of affinities, avidities, and complement activation of adalimumab, infliximab, and etanercept in binding to soluble and membrane tumor necrosis factor. Clin. Immunol. 2009, 131, 308–316. [Google Scholar] [CrossRef] [PubMed]
- Furst, D.E.; Wallis, R.; Broder, M.; Beenhouwer, D.O. Tumor necrosis factor antagonists: Different kinetics and/or mechanisms of action may explain differences in the risk for developing granulomatous infection. Semin. Arthritis Rheum. 2006, 36, 159–167. [Google Scholar] [CrossRef] [PubMed]
- Akasbi, N.; Soyfoo, M.S. Successful treatment of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with tocilizumab: A case report. Eur. J. Rheumatol. 2015, 2, 35–36. [Google Scholar] [CrossRef] [PubMed]
- Hosoya, T.; Mizoguchi, F.; Hasegawa, H.; Miura, K.; Koike, R.; Kubota, T.; Miyasaka, N.; Kohsaka, H. A Case Presenting with the Clinical Characteristics of Tumor Necrosis Factor (TNF) Receptor-associated Periodic Syndrome (TRAPS) without TNFRSF1A Mutations Successfully Treated with Tocilizumab. Intern. Med. 2015, 54, 2069–2072. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Vaitla, P.M.; Radford, P.M.; Tighe, P.J.; Powell, R.J.; McDermott, E.M.; Todd, I.; Drewe, E. Role of interleukin-6 in a patient with tumor necrosis factor receptor-associated periodic syndrome: Assessment of outcomes following treatment with the anti-interleukin-6 receptor monoclonal antibody tocilizumab. Arthritis Rheum. 2011, 63, 1151–1155. [Google Scholar] [CrossRef]
- La Torre, F.; Muratore, M.; Vitale, A.; Moramarco, F.; Quarta, L.; Cantarini, L. Canakinumab efficacy and long-term tocilizumab administration in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Rheumatol. Int. 2015, 35, 1943–1947. [Google Scholar] [CrossRef]
- Lachmann, H.J.; Quartier, P.; So, A.; Hawkins, P.N. The emerging role of interleukin-1beta in autoinflammatory diseases. Arthritis Rheum. 2011, 63, 314–324. [Google Scholar] [CrossRef]
- Simon, A.; Bodar, E.J.; van der Hilst, J.C.; van der Meer, J.W.; Fiselier, T.J.; Cuppen, M.P.; Drenth, J.P. Beneficial response to interleukin 1 receptor antagonist in traps. Am. J. Med. 2004, 117, 208–210. [Google Scholar] [CrossRef]
- Gattorno, M.; Pelagatti, M.A.; Meini, A.; Obici, L.; Barcellona, R.; Federici, S.; Buoncompagni, A.; Plebani, A.; Merlini, G.; Martini, A. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008, 58, 1516–1520. [Google Scholar] [CrossRef]
- Gentileschi, S.; Rigante, D.; Vitale, A.; Sota, J.; Frediani, B.; Galeazzi, M.; Cantarini, L. Efficacy and safety of anakinra in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) complicated by severe renal failure: A report after long-term follow-up and review of the literature. Clin. Rheumatol. 2017, 36, 1687–1690. [Google Scholar] [CrossRef]
- Obici, L.; Meini, A.; Cattalini, M.; Chicca, S.; Galliani, M.; Donadei, S.; Plebani, A.; Merlini, G. Favourable and sustained response to anakinra in tumour necrosis factor receptor-associated periodic syndrome (TRAPS) with or without AA amyloidosis. Ann. Rheum. Dis. 2011, 70, 1511–1512. [Google Scholar] [CrossRef] [PubMed]
- Grimwood, C.; Despert, V.; Jeru, I.; Hentgen, V. On-demand treatment with anakinra: A treatment option for selected TRAPS patients. Rheumatology 2015, 54, 1749–1751. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- Brizi, M.G.; Galeazzi, M.; Lucherini, O.M.; Cantarini, L.; Cimaz, R. Successful treatment of tumor necrosis factor receptor-associated periodic syndrome with canakinumab. Ann. Intern. Med. 2012, 156, 907–908. [Google Scholar] [CrossRef] [PubMed]
- Lopalco, G.; Rigante, D.; Vitale, A.; Frediani, B.; Iannone, F.; Cantarini, L. Tumor necrosis factor receptor-associated periodic syndrome managed with the couple canakinumab-alendronate. Clin. Rheumatol. 2015, 34, 807–809. [Google Scholar] [CrossRef] [PubMed]
- Gattorno, M.; Obici, L.; Cattalini, M.; Tormey, V.; Abrams, K.; Davis, N.; Speziale, A.; Bhansali, S.G.; Martini, A.; Lachmann, H.J. Canakinumab treatment for patients with active recurrent or chronic TNF receptor-associated periodic syndrome (TRAPS): An open-label, phase II study. Ann. Rheum. Dis. 2017, 76, 173–178. [Google Scholar] [CrossRef] [PubMed] [Green Version]
- De Benedetti, F.; Gattorno, M.; Anton, J.; Ben-Chetrit, E.; Frenkel, J.; Hoffman, H.M.; Kone-Paut, I.; Lachmann, H.J.; Ozen, S.; Simon, A.; et al. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes. N. Engl. J. Med. 2018, 378, 1908–1919. [Google Scholar] [CrossRef] [PubMed] [Green Version]
Biological Medication Used | Type of Study | Dose of Medication | Follow-up Period | Number of Patients | Adverse Events | Ref. |
---|---|---|---|---|---|---|
Etanercept | Case report | 0.4 mg/kg 2× week | 12 months | 1 | minor injection site reactions | [73] |
Open label study | NA | 24 weeks | 7 | NA | [74] | |
Open label study | 25 mg 2× week | 18 months | 3 | NA | [77] | |
Open label study | 25 mg 2× week | 24 weeks | 7 | minor injection site reactions, upper respiratory tract infections | [76] | |
Open label study | 25 mg (adult dose) or 0.4 mg/kg (pediatric dose) 2× week | 6 months | 9 | NA | [57] | |
Open-label dose escalation study | 25 mg 2× week for 14 weeks, then 25 mg 3× week for 14 weeks | 10 years | 15 | Injection site reactions | [75] | |
Anakinra | Case report | 100 mg daily | 3 months | 1 | Injection site reactions | [88] |
Open-label dose | 100 mg daily | On demand | 2 | Injection site reactions | [92] | |
Open-label dose | 100 mg daily | 12–46 months | 7 | Injection site reactions, respiratory and urinary infections | [91] | |
Open-label dose | 1.5 mg/kg daily | 15 days | 4 | Injection site reactions | [95] | |
Canakinumab | Case report | 150 mg every 8 weeks | 18 months | 1 | NA | [93] |
Case report | 150 mg every 4 weeks | 47 months | 1 | NA | [94] | |
Case report | 4 mg/kg mg every 8 weeks | 36 months | 1 | NA | [86] | |
Phase II, open-label study 2b | 150 mg every 4 weeks (2 mg/kg pediatric patients) | 33 months | 20 | Nasopharingitis, abdominal pain, headache | [95] | |
Phase III, randomized Double-blind, placebo-controlled study | 150 mg every 4 weeks (2 mg/kg if weight less 40 kg) | 4 months | 22 | Nasopharingitis, injection site reactions, upper respiratory tract infection | [96] | |
Phase III, Randomized, withdrawal period study | 150 mg every 8 weeks (2 mg/kg if weight less 40 kg) | 6 months | 4 | Nasopharingitis, injection site reactions, upper respiratory tract infection | [96] | |
Tocilizumab | Case report | 8 mg/kg every 4 weeks | 6 months | 1 | NA | [83] |
Case report | 8 mg/kg every 2 weeks then PRN | >6 months | 1 | NA | [84] | |
Case report | 8 mg/kg every 4 weeks | 6 months | 1 | Trombocytopenia | [85] | |
Case report | 8 mg/kg every 4 weeks | 42 months | 1 | NA | [86] |
© 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
Share and Cite
Cudrici, C.; Deuitch, N.; Aksentijevich, I. Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives. Int. J. Mol. Sci. 2020, 21, 3263. https://doi.org/10.3390/ijms21093263
Cudrici C, Deuitch N, Aksentijevich I. Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives. International Journal of Molecular Sciences. 2020; 21(9):3263. https://doi.org/10.3390/ijms21093263
Chicago/Turabian StyleCudrici, Cornelia, Natalie Deuitch, and Ivona Aksentijevich. 2020. "Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives" International Journal of Molecular Sciences 21, no. 9: 3263. https://doi.org/10.3390/ijms21093263