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Hereditary inflammatory or rheumatoid-like osteoarthropathy

MedGen UID:
1843067
Concept ID:
C5681235
Disease or Syndrome
Synonym: Genetic inflammatory or rheumatoid-like osteoarthropathy
 
Orphanet: ORPHA498445

Professional guidelines

PubMed

Adams D, Ando Y, Beirão JM, Coelho T, Gertz MA, Gillmore JD, Hawkins PN, Lousada I, Suhr OB, Merlini G
J Neurol 2021 Jun;268(6):2109-2122. Epub 2020 Jan 6 doi: 10.1007/s00415-019-09688-0. PMID: 31907599Free PMC Article
Singh VK, Yadav D, Garg PK
JAMA 2019 Dec 24;322(24):2422-2434. doi: 10.1001/jama.2019.19411. PMID: 31860051
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO)
Ann Rheum Dis 2019 Aug;78(8):1025-1032. Epub 2019 Apr 24 doi: 10.1136/annrheumdis-2019-215048. PMID: 31018962

Recent clinical studies

Etiology

Delaleu J, Lepelletier C, Calugareanu A, De Masson A, Charvet E, Petit A, Giurgea I, Amselem S, Karabina S, Jachiet M, Mahevas T, Ram-Wolff C, Vignon-Pennamen MD, Bagot M, Battistella M, Bouaziz JD
Rev Med Interne 2022 Dec;43(12):727-738. Epub 2022 Jul 20 doi: 10.1016/j.revmed.2022.06.007. PMID: 35870984
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO)
Ann Rheum Dis 2019 Aug;78(8):1025-1032. Epub 2019 Apr 24 doi: 10.1136/annrheumdis-2019-215048. PMID: 31018962
Mayerle J, Sendler M, Hegyi E, Beyer G, Lerch MM, Sahin-Tóth M
Gastroenterology 2019 May;156(7):1951-1968.e1. Epub 2019 Jan 18 doi: 10.1053/j.gastro.2018.11.081. PMID: 30660731Free PMC Article
Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437Free PMC Article
Weitz J, Koch M, Debus J, Höhler T, Galle PR, Büchler MW
Lancet 2005 Jan 8-14;365(9454):153-65. doi: 10.1016/S0140-6736(05)17706-X. PMID: 15639298

Diagnosis

Rossor AM, Reilly MM
Acta Neurol Scand 2022 Oct;146(4):325-331. Epub 2022 May 25 doi: 10.1111/ane.13650. PMID: 35611606Free PMC Article
Murali N, El Hayek SM
Emerg Med Clin North Am 2021 Nov;39(4):839-850. Epub 2021 Sep 10 doi: 10.1016/j.emc.2021.07.003. PMID: 34600641Free PMC Article
Murphree CR, Nguyen NN, Raghunathan V, Olson SR, DeLoughery T, Shatzel JJ
Vox Sang 2020 May;115(4):255-262. Epub 2020 Feb 20 doi: 10.1111/vox.12896. PMID: 32080859
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO)
Ann Rheum Dis 2019 Aug;78(8):1025-1032. Epub 2019 Apr 24 doi: 10.1136/annrheumdis-2019-215048. PMID: 31018962
Mangold AR, Torgerson RR, Rogers RS 3rd
Clin Dermatol 2016 Jul-Aug;34(4):458-69. Epub 2016 Mar 8 doi: 10.1016/j.clindermatol.2016.02.018. PMID: 27343960

Therapy

Caballero T
J Investig Allergol Clin Immunol 2021 Feb;31(1):1-16. doi: 10.18176/jiaci.0653. PMID: 33602658
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO)
Ann Rheum Dis 2019 Aug;78(8):1025-1032. Epub 2019 Apr 24 doi: 10.1136/annrheumdis-2019-215048. PMID: 31018962
Boehme AK, Esenwa C, Elkind MS
Circ Res 2017 Feb 3;120(3):472-495. doi: 10.1161/CIRCRESAHA.116.308398. PMID: 28154098Free PMC Article
Suresh E, Wimalaratna S
Postgrad Med J 2013 Aug;89(1054):470-7. Epub 2013 Apr 17 doi: 10.1136/postgradmedj-2013-131752. PMID: 23596213
Gabay C, Lamacchia C, Palmer G
Nat Rev Rheumatol 2010 Apr;6(4):232-41. Epub 2010 Feb 23 doi: 10.1038/nrrheum.2010.4. PMID: 20177398

Prognosis

Ciesielska A, Matyjek M, Kwiatkowska K
Cell Mol Life Sci 2021 Feb;78(4):1233-1261. Epub 2020 Oct 15 doi: 10.1007/s00018-020-03656-y. PMID: 33057840Free PMC Article
Tufan A, Lachmann HJ
Turk J Med Sci 2020 Nov 3;50(SI-2):1591-1610. doi: 10.3906/sag-2008-11. PMID: 32806879Free PMC Article
Singh VK, Yadav D, Garg PK
JAMA 2019 Dec 24;322(24):2422-2434. doi: 10.1001/jama.2019.19411. PMID: 31860051
Mayerle J, Sendler M, Hegyi E, Beyer G, Lerch MM, Sahin-Tóth M
Gastroenterology 2019 May;156(7):1951-1968.e1. Epub 2019 Jan 18 doi: 10.1053/j.gastro.2018.11.081. PMID: 30660731Free PMC Article
Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437Free PMC Article

Clinical prediction guides

Agashe RP, Lippman SM, Kurzrock R
Mol Cancer Ther 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323. PMID: 36252553Free PMC Article
Singh VK, Yadav D, Garg PK
JAMA 2019 Dec 24;322(24):2422-2434. doi: 10.1001/jama.2019.19411. PMID: 31860051
Mayerle J, Sendler M, Hegyi E, Beyer G, Lerch MM, Sahin-Tóth M
Gastroenterology 2019 May;156(7):1951-1968.e1. Epub 2019 Jan 18 doi: 10.1053/j.gastro.2018.11.081. PMID: 30660731Free PMC Article
Haag SM, Gulen MF, Reymond L, Gibelin A, Abrami L, Decout A, Heymann M, van der Goot FG, Turcatti G, Behrendt R, Ablasser A
Nature 2018 Jul;559(7713):269-273. Epub 2018 Jul 4 doi: 10.1038/s41586-018-0287-8. PMID: 29973723
Kernan KF, Carcillo JA
Int Immunol 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031. PMID: 28541437Free PMC Article

Recent systematic reviews

Seppälä TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sánchez-Guillén L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, Knebel Doeberitz MV, Duijnhoven FJBV, Quirke P, Sampson JR, Møller P, Möslein G; European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)
Br J Surg 2021 May 27;108(5):484-498. doi: 10.1002/bjs.11902. PMID: 34043773Free PMC Article
Cacione DG, Macedo CR, Baptista-Silva JC
Cochrane Database Syst Rev 2016 Mar 11;3(3):CD011033. doi: 10.1002/14651858.CD011033.pub3. PMID: 26967103Free PMC Article
ter Haar NM, Oswald M, Jeyaratnam J, Anton J, Barron KS, Brogan PA, Cantarini L, Galeotti C, Grateau G, Hentgen V, Hofer M, Kallinich T, Kone-Paut I, Lachmann HJ, Ozdogan H, Ozen S, Russo R, Simon A, Uziel Y, Wouters C, Feldman BM, Vastert SJ, Wulffraat NM, Benseler SM, Frenkel J, Gattorno M, Kuemmerle-Deschner JB
Ann Rheum Dis 2015 Sep;74(9):1636-44. Epub 2015 Jun 24 doi: 10.1136/annrheumdis-2015-207546. PMID: 26109736
Kley RA, Tarnopolsky MA, Vorgerd M
Cochrane Database Syst Rev 2013 Jun 5;2013(6):CD004760. doi: 10.1002/14651858.CD004760.pub4. PMID: 23740606Free PMC Article
Kley RA, Tarnopolsky MA, Vorgerd M
Cochrane Database Syst Rev 2011 Feb 16;(2):CD004760. doi: 10.1002/14651858.CD004760.pub3. PMID: 21328269

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