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Original Research

The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases

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Pages 999-1010 | Published online: 04 May 2022

References

  • Thomas KT, Feder JHM, Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr. 1999;135(1):15–21. doi:10.1016/S0022-3476(99)70321-5
  • Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell. 2010;140(6):784–790. doi:10.1016/j.cell.2010.03.002
  • Russo RA, Brogan PA. Monogenic autoinflammatory diseases. Rheumatology. 2014;53(11):1927–1939. doi:10.1093/rheumatology/keu170
  • Toplak N, Frenkel J, Ozen S, et al. An international registry on autoinflammatory diseases: the Eurofever experience. Ann Rheum Dis. 2012;71(7):1177–1182. doi:10.1136/annrheumdis-2011-200549
  • Rowczenio DM, Lachmann HJ. How to prescribe a genetic test for the diagnosis of autoinflammatory diseases? La Presse Méd. 2019;48(1):e49–e59. doi:10.1016/j.lpm.2018.08.015
  • Kallinich T, Gattorno M, Grattan C, et al. Unexplained recurrent fever: when is autoinflammation the explanation? Allergy. 2013;68(3):285–296. doi:10.1111/all.12084
  • Gattorno M, Hofer M, Federici S, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019;78(8):1025–1032. doi:10.1136/annrheumdis-2019-215048
  • De Jesus AA, Goldbach-Mansky R. Monogenic autoinflammatory diseases: concept and clinical manifestations. Clin Immunol. 2013;147(3):155–174. doi:10.1016/j.clim.2013.03.016
  • Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol. 2009;27:621–668. doi:10.1146/annurev.immunol.25.022106.141627
  • Ugwumadu L, Chakrabarti R, Williams-Brown E, et al. The role of the multidisciplinary team in the management of deep infiltrating endometriosis. Gynecol Surg. 2017;14(1):1–4. doi:10.1186/s10397-017-1018-0
  • Cobo-Ibáñez T, Villaverde V, Seoane-Mato D, et al. Multidisciplinary dermatology–rheumatology management for patients with moderate-to-severe psoriasis and psoriatic arthritis: a systematic review. Rheumatol Int. 2016;36(2):221–229. doi:10.1007/s00296-015-3377-z
  • Canhao H, Faustino A, Martins F, Fonseca JE, Nero P, Branco JC. Reuma. pt-the rheumatic diseases Portuguese register. Acta Reumatol Port. 2011;36(1):45–56.
  • Santos MJ, Canhão H, Faustino A, Fonseca JE. Reuma. pt–a case study. Acta Médica Portuguesa. 2016;29(2):83–84. doi:10.20344/amp.7243
  • Martorana D, Bonatti F, Mozzoni P, Vaglio A, Percesepe A. Monogenic autoinflammatory diseases with Mendelian inheritance: genes, mutations, and genotype/phenotype correlations. Front Immunol. 2017;8(344). doi:10.3389/fimmu.2017.00344
  • Welzel T, Kuemmerle-Deschner JB. Diagnosis and management of the cryopyrin-associated periodic syndromes (CAPS): what do we know today? J Clin Med. 2021;10(1):128. doi:10.3390/jcm10010128
  • Piram M, Koné-Paut I, Lachmann HJ, et al. Validation of the auto-inflammatory diseases activity index (AIDAI) for hereditary recurrent fever syndromes. Ann Rheum Dis. 2014;73(12):2168–2173. doi:10.1136/annrheumdis-2013-203666
  • Vanoni F, Caorsi R, Aeby S, et al. Towards a new set of classification criteria for PFAPA syndrome. Pediatric Rheumatol. 2018;16(1):1–4. doi:10.1186/s12969-018-0277-2
  • Wekell P. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome–PFAPA syndrome. La Presse Médicale. 2019;48(1):e77–e87. doi:10.1016/j.lpm.2018.08.016
  • Georgin-Lavialle S, Fayand A, Rodrigues F, Bachmeyer C, Savey L, Grateau G. Autoinflammatory diseases: state of the art. La Presse Méd. 2019;48(1):e25–e48. doi:10.1016/j.lpm.2018.12.003
  • Yao Q, Lacbawan F, Li J. Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic. Paper presented at: Seminars in arthritis and rheumatism; 2016.
  • van der Hilst JC, Bodar EJ, Barron KS, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine. 2008;87(6):301–310. doi:10.1097/MD.0b013e318190cfb7
  • Grandemange S, Cabasson S, Sarrabay G, et al. Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA‐like phenotype. Mol Genet Genomic Med. 2017;5(2):110–116. doi:10.1002/mgg3.229
  • 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(9):1158–1162. doi:10.1136/ard.2005.048611
  • Savic S, Dickie LJ, Battellino M, McDermott MF. Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases. Curr Opin Rheumatol. 2012;24(1):103–112. doi:10.1097/BOR.0b013e32834dd2d5
  • Karacan İ, Balamir A, Uğurlu S, et al. Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. Rheumatol Int. 2019;39(5):911–919. doi:10.1007/s00296-019-04252-5
  • Federici S, Sormani MP, Ozen S, et al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis. 2015;74(5):799–805. doi:10.1136/annrheumdis-2014-206580
  • Stoffels M, Kastner DL, Dogs O. New tricks: monogenic autoinflammatory disease unleashed. Annu Rev Genomics Hum Genet. 2016;17(1):245–272. doi:10.1146/annurev-genom-090413-025334
  • Tanaka N, Izawa K, Saito MK, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011;63(11):3625–3632. doi:10.1002/art.30512
  • Rowczenio DM, Gomes SM, Aróstegui JI, et al. Late-onset cryopyrin-associated periodic syndromes caused by somatic NLRP3 mosaicism—UK single center experience. Front Immunol. 2017;8:1410. doi:10.3389/fimmu.2017.01410
  • Saito M, Nishikomori R, Kambe N, et al. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood. 2008;111(4):2132–2141. doi:10.1182/blood-2007-06-094201
  • Nakagawa K, Gonzalez-Roca E, Souto A, et al. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. Ann Rheum Dis. 2015;74(3):603–610. doi:10.1136/annrheumdis-2013-204361
  • Kuemmerle-Deschner JB, Lohse P, Koetter I, et al. NLRP3 E311K mutation in a large family with Muckle-Wells syndrome-description of a heterogeneous phenotype and response to treatment. Arthritis Res Ther. 2011;13(6):1–9. doi:10.1186/ar3526
  • Mensa-Vilaró A, García-Morato MB, de la Calle-martin O, et al. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases. J Allergy Clin Immunol. 2019;143(1):359–368. doi:10.1016/j.jaci.2018.09.009
  • Foster HE, Minden K, Clemente D, et al. EULAR/PReS standards and recommendations for the transitional care of young people with juvenile-onset rheumatic diseases. Ann Rheum Dis. 2017;76(4):639–646. doi:10.1136/annrheumdis-2016-210112
  • Singh-Grewal D. Multidisciplinary paediatric rheumatology services in Australia and New Zealand. Med J Aust. 2017;206(2):96–97. doi:10.5694/mja16.00710
  • Leal I, Romão VC, Mano S, et al. A non-infectious uveitis multidisciplinary clinic in a tertiary referral center: clinical impact and added value. J Multidiscip Healthc. 2021;14:695. doi:10.2147/JMDH.S292981
  • Rosell L, Wihl J, Hagberg O, Ohlsson B, Nilbert M. Function, information, and contributions: an evaluation of national multidisciplinary team meetings for rare cancers. Rare Tumors. 2019;11:2036361319841696. doi:10.1177/2036361319841696
  • Zinterl C, Reis PC, Esteves IC, et al. The experience of a multidisciplinary clinic for systemic autoinflammatory diseases. Acta Reumatol Port. 2021;46(4):104.