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Genetic systemic or rheumatologic disease

MedGen UID:
798619
Concept ID:
CN202531
Disease or Syndrome
Synonym: Rare genetic systemic or rheumatologic disease
 
Orphanet: ORPHA271870

Professional guidelines

PubMed

Burstein HJ, Curigliano G, Thürlimann B, Weber WP, Poortmans P, Regan MM, Senn HJ, Winer EP, Gnant M; Panelists of the St Gallen Consensus Conference
Ann Oncol 2021 Oct;32(10):1216-1235. Epub 2021 Jul 6 doi: 10.1016/j.annonc.2021.06.023. PMID: 34242744Free PMC Article
Biller LH, Schrag D
JAMA 2021 Feb 16;325(7):669-685. doi: 10.1001/jama.2021.0106. PMID: 33591350
Fava A, Petri M
J Autoimmun 2019 Jan;96:1-13. Epub 2018 Nov 16 doi: 10.1016/j.jaut.2018.11.001. PMID: 30448290Free PMC Article

Recent clinical studies

Etiology

Gibson A, Deshpande P, Campbell CN, Krantz MS, Mukherjee E, Mockenhaupt M, Pirmohamed M, Palubinsky AM, Phillips EJ
J Allergy Clin Immunol 2023 Feb;151(2):289-300.e4. doi: 10.1016/j.jaci.2022.12.005. PMID: 36740326Free PMC Article
Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA
J Allergy Clin Immunol 2022 Oct;150(4):947-954. Epub 2022 Jun 24 doi: 10.1016/j.jaci.2022.06.009. PMID: 35753512Free PMC Article
Liu JC, Dong SS, Shen H, Yang DY, Chen BB, Ma XY, Peng YR, Xiao HM, Deng HW
Ageing Res Rev 2022 Apr;76:101576. Epub 2022 Jan 29 doi: 10.1016/j.arr.2022.101576. PMID: 35104630
Horgusluoglu E, Neff R, Song WM, Wang M, Wang Q, Arnold M, Krumsiek J, Galindo-Prieto B, Ming C, Nho K, Kastenmüller G, Han X, Baillie R, Zeng Q, Andrews S, Cheng H, Hao K, Goate A, Bennett DA, Saykin AJ, Kaddurah-Daouk R, Zhang B; Alzheimer's Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Metabolomics Consortium
Alzheimers Dement 2022 Jun;18(6):1260-1278. Epub 2021 Nov 10 doi: 10.1002/alz.12468. PMID: 34757660Free PMC Article
Seifi M, Walter MA
Clin Genet 2018 Jun;93(6):1123-1130. Epub 2018 Jan 25 doi: 10.1111/cge.13148. PMID: 28972279

Diagnosis

Similuk MN, Yan J, Ghosh R, Oler AJ, Franco LM, Setzer MR, Kamen M, Jodarski C, DiMaggio T, Davis J, Gore R, Jamal L, Borges A, Gentile N, Niemela J, Lowe C, Jevtich K, Yu Y, Hullfish H, Hsu AP, Hong C, Littel P, Seifert BA, Milner J, Johnston JJ, Cheng X, Li Z, Veltri D, Huang K, Kaladi K, Barnett J, Zhang L, Vlasenko N, Fan Y, Karlins E, Ganakammal SR, Gilmore R, Tran E, Yun A, Mackey J, Yazhuk S, Lack J, Kuram V, Cao W, Huse S, Frank K, Fahle G, Rosenzweig S, Su Y, Hwang S, Bi W, Bennett J, Myles IA, De Ravin SS, Fuss I, Strober W, Bielekova B, Almeida de Jesus A, Goldbach-Mansky R, Williamson P, Kumar K, Dempsy C, Frischmeyer-Guerrerio P, Fisch R, Bolan H, Metcalfe DD, Komarow H, Carter M, Druey KM, Sereti I, Dropulic L, Klion AD, Khoury P, O' Connell EM, Holland-Thomas NC, Brown T, McDermott DH, Murphy PM, Bundy V, Keller MD, Peng C, Kim H, Norman S, Delmonte OM, Kang E, Su HC, Malech H, Freeman A, Zerbe C, Uzel G, Bergerson JRE, Rao VK, Olivier KN, Lyons JJ, Lisco A, Cohen JI, Lionakis MS, Biesecker LG, Xirasagar S, Notarangelo LD, Holland SM, Walkiewicz MA
J Allergy Clin Immunol 2022 Oct;150(4):947-954. Epub 2022 Jun 24 doi: 10.1016/j.jaci.2022.06.009. PMID: 35753512Free PMC Article
Sarhangi N, Hajjari S, Heydari SF, Ganjizadeh M, Rouhollah F, Hasanzad M
Mol Biol Rep 2022 Oct;49(10):10023-10037. Epub 2022 Jun 22 doi: 10.1007/s11033-022-07571-2. PMID: 35733061
Zhao X, Zhang L, Wang J, Zhang M, Song Z, Ni B, You Y
J Transl Med 2021 Jan 19;19(1):35. doi: 10.1186/s12967-020-02698-x. PMID: 33468161Free PMC Article
Muchtar E, Dispenzieri A, Magen H, Grogan M, Mauermann M, McPhail ED, Kurtin PJ, Leung N, Buadi FK, Dingli D, Kumar SK, Gertz MA
J Intern Med 2021 Mar;289(3):268-292. Epub 2020 Sep 14 doi: 10.1111/joim.13169. PMID: 32929754
Siracusano S, Rizzetto R, Porcaro AB
Urologia 2020 May;87(2):49-56. Epub 2020 Jan 16 doi: 10.1177/0391560319899011. PMID: 31942831

Therapy

Ham YY, Lewis JS 2nd, Thompson GR 3rd
Future Microbiol 2021 Jan;16(1):27-36. doi: 10.2217/fmb-2020-0217. PMID: 33438477
Yeung CHC, Schooling CM
Int J Epidemiol 2021 Jul 9;50(3):829-840. doi: 10.1093/ije/dyaa241. PMID: 33313759
Namikawa K, Yamazaki N
Curr Treat Options Oncol 2019 Jan 24;20(1):7. doi: 10.1007/s11864-019-0607-8. PMID: 30675668Free PMC Article
Pondé NF, Zardavas D, Piccart M
Nat Rev Clin Oncol 2019 Jan;16(1):27-44. doi: 10.1038/s41571-018-0089-9. PMID: 30206303
Czock D, Keller F, Rasche FM, Häussler U
Clin Pharmacokinet 2005;44(1):61-98. doi: 10.2165/00003088-200544010-00003. PMID: 15634032

Prognosis

Venetsanopoulou AI, Alamanos Y, Voulgari PV, Drosos AA
Expert Rev Clin Immunol 2022 Sep;18(9):923-931. Epub 2022 Jul 29 doi: 10.1080/1744666X.2022.2106970. PMID: 35904251
Sarhangi N, Hajjari S, Heydari SF, Ganjizadeh M, Rouhollah F, Hasanzad M
Mol Biol Rep 2022 Oct;49(10):10023-10037. Epub 2022 Jun 22 doi: 10.1007/s11033-022-07571-2. PMID: 35733061
Muchtar E, Dispenzieri A, Magen H, Grogan M, Mauermann M, McPhail ED, Kurtin PJ, Leung N, Buadi FK, Dingli D, Kumar SK, Gertz MA
J Intern Med 2021 Mar;289(3):268-292. Epub 2020 Sep 14 doi: 10.1111/joim.13169. PMID: 32929754
Karmacharya P, Donato AA, Aryal MR, Ghimire S, Pathak R, Shah K, Shrestha P, Poudel D, Wasser T, Subedi A, Giri S, Jalota L, Olivé A
Clin Exp Rheumatol 2016 May-Jun;34(3):404-15. Epub 2016 Mar 25 PMID: 27050250
Jonasch E, Gao J, Rathmell WK
BMJ 2014 Nov 10;349:g4797. doi: 10.1136/bmj.g4797. PMID: 25385470Free PMC Article

Clinical prediction guides

Sarhangi N, Hajjari S, Heydari SF, Ganjizadeh M, Rouhollah F, Hasanzad M
Mol Biol Rep 2022 Oct;49(10):10023-10037. Epub 2022 Jun 22 doi: 10.1007/s11033-022-07571-2. PMID: 35733061
Muchtar E, Dispenzieri A, Magen H, Grogan M, Mauermann M, McPhail ED, Kurtin PJ, Leung N, Buadi FK, Dingli D, Kumar SK, Gertz MA
J Intern Med 2021 Mar;289(3):268-292. Epub 2020 Sep 14 doi: 10.1111/joim.13169. PMID: 32929754
Surace AEA, Hedrich CM
Front Immunol 2019;10:1525. Epub 2019 Jul 4 doi: 10.3389/fimmu.2019.01525. PMID: 31333659Free PMC Article
de Benedictis FM, Attanasi M
Eur Respir Rev 2016 Mar;25(139):41-7. doi: 10.1183/16000617.0082-2015. PMID: 26929420Free PMC Article
Oji V, Luger TA
Clin Exp Rheumatol 2015 Sep-Oct;33(5 Suppl 93):S14-9. Epub 2015 Oct 15 PMID: 26472560

Recent systematic reviews

Yuan S, Wang L, Zhang H, Xu F, Zhou X, Yu L, Sun J, Chen J, Ying H, Xu X, Yu Y, Spiliopoulou A, Shen X, Wilson J, Gill D, Theodoratou E, Larsson SC, Li X
EBioMedicine 2023 Mar;89:104488. Epub 2023 Feb 24 doi: 10.1016/j.ebiom.2023.104488. PMID: 36842216Free PMC Article
Yuan S, Sun J, Lu Y, Xu F, Li D, Jiang F, Wan Z, Li X, Qin LQ, Larsson SC
BMC Med 2022 Nov 23;20(1):455. doi: 10.1186/s12916-022-02658-w. PMID: 36424608Free PMC Article
Ahmed W, Galati J, Kumar A, Christos PJ, Longman R, Lukin DJ, Scherl E, Battat R
Clin Gastroenterol Hepatol 2022 Mar;20(3):e361-e379. Epub 2021 Mar 31 doi: 10.1016/j.cgh.2021.03.034. PMID: 33798711
Wang WH, Urbina AN, Chang MR, Assavalapsakul W, Lu PL, Chen YH, Wang SF
J Microbiol Immunol Infect 2020 Dec;53(6):963-978. Epub 2020 Mar 26 doi: 10.1016/j.jmii.2020.03.007. PMID: 32265181
Weidner T, Illing T, Elsner P
Am J Clin Dermatol 2017 Oct;18(5):629-642. doi: 10.1007/s40257-017-0278-9. PMID: 28342017

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