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Genetic systemic or rheumatologic disease

MedGen UID:
1843128
Concept ID:
C5680758
Disease or Syndrome
Synonym: Rare genetic systemic or rheumatologic disease
 
Orphanet: ORPHA271870

Professional guidelines

PubMed

Barbhaiya M, Zuily S, Naden R, Hendry A, Manneville F, Amigo MC, Amoura Z, Andrade D, Andreoli L, Artim-Esen B, Atsumi T, Avcin T, Belmont HM, Bertolaccini ML, Branch DW, Carvalheiras G, Casini A, Cervera R, Cohen H, Costedoat-Chalumeau N, Crowther M, de Jesus G, Delluc A, Desai S, De Sancho M, Devreese KM, Diz-Kucukkaya R, Duarte-Garcia A, Frances C, Garcia D, Gris JC, Jordan N, Leaf RK, Kello N, Knight JS, Laskin C, Lee AI, Legault K, Levine SR, Levy RA, Limper M, Lockshin MD, Mayer-Pickel K, Musial J, Meroni PL, Orsolini G, Ortel TL, Pengo V, Petri M, Pons-Estel G, Gomez-Puerta JA, Raimboug Q, Roubey R, Sanna G, Seshan SV, Sciascia S, Tektonidou MG, Tincani A, Wahl D, Willis R, Yelnik C, Zuily C, Guillemin F, Costenbader K, Erkan D; ACR/EULAR APS Classification Criteria Collaborators
Arthritis Rheumatol 2023 Oct;75(10):1687-1702. Epub 2023 Aug 28 doi: 10.1002/art.42624. PMID: 37635643
Gossard TR, Trotti LM, Videnovic A, St Louis EK
Neurotherapeutics 2021 Jan;18(1):140-155. Epub 2021 Apr 20 doi: 10.1007/s13311-021-01019-4. PMID: 33880737Free PMC Article
Biller LH, Schrag D
JAMA 2021 Feb 16;325(7):669-685. doi: 10.1001/jama.2021.0106. PMID: 33591350

Recent clinical studies

Etiology

Zhang J, Lee PY, Aksentijevich I, Zhou Q
Annu Rev Genet 2023 Nov 27;57:245-274. Epub 2023 Aug 10 doi: 10.1146/annurev-genet-030123-084224. PMID: 37562411
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

Diagnosis

Vitale A, Caggiano V, Bimonte A, Caroni F, Tosi GM, Fabbiani A, Renieri A, Bocchia M, Frediani B, Fabiani C, Cantarini L
Intern Emerg Med 2023 Apr;18(3):711-722. Epub 2023 Jan 20 doi: 10.1007/s11739-023-03193-z. PMID: 36662445Free 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
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

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
Fukuhara H, Ino Y, Todo T
Cancer Sci 2016 Oct;107(10):1373-1379. Epub 2016 Sep 9 doi: 10.1111/cas.13027. PMID: 27486853Free PMC Article
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
Czock D, Keller F, Rasche FM, Häussler U
Clin Pharmacokinet 2005;44(1):61-98. doi: 10.2165/00003088-200544010-00003. PMID: 15634032

Prognosis

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
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
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
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
de Benedictis FM, Attanasi M
Eur Respir Rev 2016 Mar;25(139):41-7. doi: 10.1183/16000617.0082-2015. PMID: 26929420Free PMC Article

Recent systematic reviews

Khan MB, Yang ZS, Lin CY, Hsu MC, Urbina AN, Assavalapsakul W, Wang WH, Chen YH, Wang SF
J Infect Public Health 2023 Oct;16(10):1625-1642. Epub 2023 Aug 3 doi: 10.1016/j.jiph.2023.08.001. PMID: 37595484
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
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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