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Autoimmune disease, susceptibility to, 6(AIS6)

MedGen UID:
462147
Concept ID:
C3150797
Finding
Synonym: Autoimmune disease 6
 
Gene (location): SIAE (11q24.2)
 
Monarch Initiative: MONDO:0013303
OMIM®: 613551

Definition

Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene. [from MONDO]

Professional guidelines

PubMed

Klubo-Gwiezdzinska J, Wartofsky L
Pol Arch Intern Med 2022 Mar 30;132(3) Epub 2022 Mar 3 doi: 10.20452/pamw.16222. PMID: 35243857Free PMC Article
Sharp SA, Rich SS, Wood AR, Jones SE, Beaumont RN, Harrison JW, Schneider DA, Locke JM, Tyrrell J, Weedon MN, Hagopian WA, Oram RA
Diabetes Care 2019 Feb;42(2):200-207. doi: 10.2337/dc18-1785. PMID: 30655379Free PMC Article
Fodor A, Cozma A, Karnieli E
Per Med 2017 Nov;14(6):531-549. Epub 2017 Nov 24 doi: 10.2217/pme-2017-0043. PMID: 29749858

Recent clinical studies

Etiology

Lincoln MR, Connally N, Axisa PP, Gasperi C, Mitrovic M, van Heel D, Wijmenga C, Withoff S, Jonkers IH, Padyukov L; International Multiple Sclerosis Genetics Consortium, Rich SS, Graham RR, Gaffney PM, Langefeld CD, Vyse TJ, Hafler DA, Chun S, Sunyaev SR, Cotsapas C
Nat Genet 2024 May;56(5):838-845. Epub 2024 May 13 doi: 10.1038/s41588-024-01732-8. PMID: 38741015
Rosi-Schumacher M, Baker J, Waris J, Seiffert-Sinha K, Sinha AA
Front Immunol 2023;14:1159351. Epub 2023 Apr 25 doi: 10.3389/fimmu.2023.1159351. PMID: 37180132Free PMC Article
Neven Q, Boulanger C, Bruwier A, de Ville de Goyet M, Meyts I, Moens L, Van Damme A, Brichard B
J Clin Immunol 2021 Jan;41(1):51-58. Epub 2020 Oct 4 doi: 10.1007/s10875-020-00883-7. PMID: 33011939
Rodríguez Y, Rojas M, Pacheco Y, Acosta-Ampudia Y, Ramírez-Santana C, Monsalve DM, Gershwin ME, Anaya JM
Cell Mol Immunol 2018 Jun;15(6):547-562. Epub 2018 Jan 29 doi: 10.1038/cmi.2017.142. PMID: 29375121Free PMC Article
Arakeri G, Rai KK, Hunasgi S, Merkx MAW, Gao S, Brennan PA
J Oral Pathol Med 2017 Jul;46(6):406-412. Epub 2017 May 4 doi: 10.1111/jop.12581. PMID: 28391620

Diagnosis

Paragliola RM, Corsello A, Papi G, Pontecorvi A, Corsello SM
Int J Mol Sci 2021 Mar 19;22(6) doi: 10.3390/ijms22063131. PMID: 33808529Free PMC Article
Tsokos GC
Nat Immunol 2020 Jun;21(6):605-614. Epub 2020 May 4 doi: 10.1038/s41590-020-0677-6. PMID: 32367037Free PMC Article
Ragusa F, Fallahi P, Elia G, Gonnella D, Paparo SR, Giusti C, Churilov LP, Ferrari SM, Antonelli A
Best Pract Res Clin Endocrinol Metab 2019 Dec;33(6):101367. Epub 2019 Nov 26 doi: 10.1016/j.beem.2019.101367. PMID: 31812326
Renard D, Rosselet A
Transfus Clin Biol 2017 Sep;24(3):110-114. Epub 2017 Jun 23 doi: 10.1016/j.tracli.2017.05.013. PMID: 28648734
Gerfaud-Valentin M, Jamilloux Y, Iwaz J, Sève P
Autoimmun Rev 2014 Jul;13(7):708-22. Epub 2014 Mar 19 doi: 10.1016/j.autrev.2014.01.058. PMID: 24657513

Therapy

Klubo-Gwiezdzinska J, Wartofsky L
Pol Arch Intern Med 2022 Mar 30;132(3) Epub 2022 Mar 3 doi: 10.20452/pamw.16222. PMID: 35243857Free PMC Article
Ragusa F, Fallahi P, Elia G, Gonnella D, Paparo SR, Giusti C, Churilov LP, Ferrari SM, Antonelli A
Best Pract Res Clin Endocrinol Metab 2019 Dec;33(6):101367. Epub 2019 Nov 26 doi: 10.1016/j.beem.2019.101367. PMID: 31812326
Ghanima W, Cooper N, Rodeghiero F, Godeau B, Bussel JB
Haematologica 2019 Jun;104(6):1112-1123. Epub 2019 May 9 doi: 10.3324/haematol.2018.212845. PMID: 31073079Free PMC Article
Nelson CA, Stephen S, Ashchyan HJ, James WD, Micheletti RG, Rosenbach M
J Am Acad Dermatol 2018 Dec;79(6):987-1006. Epub 2018 Apr 11 doi: 10.1016/j.jaad.2017.11.064. PMID: 29653210
Renard D, Rosselet A
Transfus Clin Biol 2017 Sep;24(3):110-114. Epub 2017 Jun 23 doi: 10.1016/j.tracli.2017.05.013. PMID: 28648734

Prognosis

Neven Q, Boulanger C, Bruwier A, de Ville de Goyet M, Meyts I, Moens L, Van Damme A, Brichard B
J Clin Immunol 2021 Jan;41(1):51-58. Epub 2020 Oct 4 doi: 10.1007/s10875-020-00883-7. PMID: 33011939
Khanna D, Tashkin DP, Denton CP, Renzoni EA, Desai SR, Varga J
Am J Respir Crit Care Med 2020 Mar 15;201(6):650-660. doi: 10.1164/rccm.201903-0563CI. PMID: 31841044Free PMC Article
Gerfaud-Valentin M, Jamilloux Y, Iwaz J, Sève P
Autoimmun Rev 2014 Jul;13(7):708-22. Epub 2014 Mar 19 doi: 10.1016/j.autrev.2014.01.058. PMID: 24657513
Cree BA
Handb Clin Neurol 2014;122:193-209. doi: 10.1016/B978-0-444-52001-2.00009-1. PMID: 24507519
Carmona L, Cross M, Williams B, Lassere M, March L
Best Pract Res Clin Rheumatol 2010 Dec;24(6):733-45. doi: 10.1016/j.berh.2010.10.001. PMID: 21665122

Clinical prediction guides

Chi G, Pei J, Li X
PLoS One 2024;19(6):e0305220. Epub 2024 Jun 7 doi: 10.1371/journal.pone.0305220. PMID: 38848323Free PMC Article
Gao W, Peng C, Wang Z, Li Y, Liu M
J Transl Med 2024 May 4;22(1):425. doi: 10.1186/s12967-024-05247-y. PMID: 38704596Free PMC Article
Shams H, Shao X, Santaniello A, Kirkish G, Harroud A, Ma Q, Isobe N; University of California San Francisco MS-EPIC Team, Schaefer CA, McCauley JL, Cree BAC, Didonna A, Baranzini SE, Patsopoulos NA, Hauser SL, Barcellos LF, Henry RG, Oksenberg JR
Brain 2023 Feb 13;146(2):645-656. doi: 10.1093/brain/awac092. PMID: 35253861Free PMC Article
Opdenakker G, Van Damme J
Cytokine Growth Factor Rev 2021 Apr;58:134-140. Epub 2021 Jan 29 doi: 10.1016/j.cytogfr.2021.01.004. PMID: 33563543Free PMC Article
Rhodes B, Vyse TJ
Nat Rev Rheumatol 2010 Jun;6(6):373-7. Epub 2010 May 4 doi: 10.1038/nrrheum.2010.67. PMID: 20440286

Recent systematic reviews

Esposito JE, Annoni G, D'Amato M, Graziosi A, Troilo F, Di Risio A, Angelini G, Castiglione C, Tocco P, Volpe P, Di Iorio G, Parruti G, Polilli E
J Integr Neurosci 2024 Feb 18;23(2):35. doi: 10.31083/j.jin2302035. PMID: 38419451
Esimekara JO, Perez A, Courvoisier DS, Scolozzi P
J Stomatol Oral Maxillofac Surg 2022 Oct;123(5):e464-e473. Epub 2022 Jan 13 doi: 10.1016/j.jormas.2022.01.005. PMID: 35033725
Zhao S, Li E, Wang J, Luo L, Luo J, Zhao Z
J Rheumatol 2018 Oct;45(10):1375-1382. Epub 2018 Jun 1 doi: 10.3899/jrheum.170956. PMID: 29858239
Derry S, Wiffen PJ, Kalso EA, Bell RF, Aldington D, Phillips T, Gaskell H, Moore RA
Cochrane Database Syst Rev 2017 May 12;5(5):CD008609. doi: 10.1002/14651858.CD008609.pub2. PMID: 28497473Free PMC Article
Li X, Yang Y, Zhou F, Zhang Y, Lu H, Jin Q, Gao L
PLoS One 2011 Jan 25;6(1):e15831. doi: 10.1371/journal.pone.0015831. PMID: 21283567Free PMC Article

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