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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

Hashimoto thyroiditis: an evidence-based guide to etiology, diagnosis and treatment.
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
Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.
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
Personalized epigenetic management of diabetes.
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

Early life origin of type 1 diabetes.
Knip M, Luopajärvi K, Härkönen T
Semin Immunopathol 2017 Nov;39(6):653-667. Epub 2017 Nov 23 doi: 10.1007/s00281-017-0665-6. PMID: 29170800
Role for interferon regulatory factors in autoimmunity.
Richez C, Barnetche T, Miceli-Richard C, Blanco P, Moreau JF, Rifkin I, Schaeverbeke T
Joint Bone Spine 2010 Dec;77(6):525-31. Epub 2010 Sep 21 doi: 10.1016/j.jbspin.2010.08.005. PMID: 20863736
Autoinflammatory conditions: when to suspect? How to treat?
Grateau G, Duruöz MT
Best Pract Res Clin Rheumatol 2010 Jun;24(3):401-11. doi: 10.1016/j.berh.2009.12.009. PMID: 20534373
Environmental factors and their timing in adult-onset multiple sclerosis.
Handel AE, Giovannoni G, Ebers GC, Ramagopalan SV
Nat Rev Neurol 2010 Mar;6(3):156-66. Epub 2010 Feb 16 doi: 10.1038/nrneurol.2010.1. PMID: 20157307
Complement deficiency and autoimmunity.
Sullivan KE
Curr Opin Pediatr 1998 Dec;10(6):600-6. doi: 10.1097/00008480-199810060-00011. PMID: 9848020

Diagnosis

Cushing's Syndrome Effects on the Thyroid.
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
Autoimmunity and organ damage in systemic lupus erythematosus.
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
Hashimotos' thyroiditis: Epidemiology, pathogenesis, clinic and therapy.
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
Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases.
Figueras-Nart I, Mascaró JM Jr, Solanich X, Hernández-Rodríguez J
Front Immunol 2019;10:2448. Epub 2019 Oct 29 doi: 10.3389/fimmu.2019.02448. PMID: 31736939Free PMC Article
Acne fulminans.
Goldstein B, Chalker DK, Lesher JL Jr
South Med J 1990 Jun;83(6):705-8. doi: 10.1097/00007611-199006000-00030. PMID: 2141435

Therapy

Hashimoto thyroiditis: an evidence-based guide to etiology, diagnosis and treatment.
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
Hashimotos' thyroiditis: Epidemiology, pathogenesis, clinic and therapy.
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
Drug-induced hemolytic anemia: Pharmacological aspects.
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
Pediatric Guillain-Barré syndrome.
Ryan MM
Curr Opin Pediatr 2013 Dec;25(6):689-93. doi: 10.1097/MOP.0b013e328365ad3f. PMID: 24240288
Acne fulminans.
Goldstein B, Chalker DK, Lesher JL Jr
South Med J 1990 Jun;83(6):705-8. doi: 10.1097/00007611-199006000-00030. PMID: 2141435

Prognosis

Causal effects of autoimmune diseases on thyroid cancer: a two-sample Mendelian randomization study.
Peng W, Xu B, Zhou H, Du J, Ge X, Huang S
Front Endocrinol (Lausanne) 2024;15:1401458. Epub 2024 Aug 8 doi: 10.3389/fendo.2024.1401458. PMID: 39175579Free PMC Article
Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).
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
Rituximab in the treatment of immune thrombocytopenia: what is the role of this agent in 2019?
Lucchini E, Zaja F, Bussel J
Haematologica 2019 Jun;104(6):1124-1135. Epub 2019 May 24 doi: 10.3324/haematol.2019.218883. PMID: 31126963Free PMC Article
Adult-onset Still's disease.
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
Epidemiology of the rheumatic diseases of childhood.
Manners PJ
Curr Rheumatol Rep 2003 Dec;5(6):453-7. doi: 10.1007/s11926-003-0056-y. PMID: 14609490

Clinical prediction guides

Causal effects of autoimmune diseases on thyroid cancer: a two-sample Mendelian randomization study.
Peng W, Xu B, Zhou H, Du J, Ge X, Huang S
Front Endocrinol (Lausanne) 2024;15:1401458. Epub 2024 Aug 8 doi: 10.3389/fendo.2024.1401458. PMID: 39175579Free PMC Article
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the "omnigenic" sparse effector hypothesis of complex trait genetics.
Iakovliev A, McGurnaghan SJ, Hayward C, Colombo M, Lipschutz D, Spiliopoulou A, Colhoun HM, McKeigue PM
Am J Hum Genet 2023 Jun 1;110(6):913-926. Epub 2023 May 9 doi: 10.1016/j.ajhg.2023.04.003. PMID: 37164005Free PMC Article
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, Halldorsson GH, Gunnarsdottir K, Sigurdsson A, Johannesson A, Sigurdsson JK, Juliusdottir T, Lund SH, Arnthorsson AO, Styrmisdottir EL, Gudmundsson J, Grondal GM, Steinsson K, Alfredsson L, Askling J, Benediktsson R, Bjarnason R, Geirsson AJ, Gudbjornsson B, Gudjonsson H, Hjaltason H, Hreidarsson AB, Klareskog L, Kockum I, Kristjansdottir H, Love TJ, Ludviksson BR, Olsson T, Onundarson PT, Orvar KB, Padyukov L, Sigurgeirsson B, Tragante V, Bjarnadottir K, Rafnar T, Masson G, Sulem P, Gudbjartsson DF, Melsted P, Thorleifsson G, Norddahl GL, Thorsteinsdottir U, Jonsdottir I, Stefansson K
Nature 2020 Aug;584(7822):619-623. Epub 2020 Jun 24 doi: 10.1038/s41586-020-2436-0. PMID: 32581359
Rituximab in the treatment of immune thrombocytopenia: what is the role of this agent in 2019?
Lucchini E, Zaja F, Bussel J
Haematologica 2019 Jun;104(6):1124-1135. Epub 2019 May 24 doi: 10.3324/haematol.2019.218883. PMID: 31126963Free PMC Article
Genetics of rheumatoid arthritis in Asia--present and future.
Yamamoto K, Okada Y, Suzuki A, Kochi Y
Nat Rev Rheumatol 2015 Jun;11(6):375-9. Epub 2015 Feb 10 doi: 10.1038/nrrheum.2015.7. PMID: 25668139

Recent systematic reviews

Oral granulomatosis with polyangiitis a systematic review.
Labrador AJP, Valdez LHM, Marin NRG, Ibazetta KAR, Chacón JAL, Fernandez AJV, Valencia MSV, Marchant SW, Sanchez KBT, Villacrez CA
Clin Exp Dent Res 2023 Feb;9(1):100-111. Epub 2023 Jan 4 doi: 10.1002/cre2.706. PMID: 36600477Free PMC Article
Dental implants in patients suffering from autoimmune diseases: A systematic critical review.
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
Management of lupus nephritis: a systematic literature review informing the 2019 update of the joint EULAR and European Renal Association-European Dialysis and Transplant Association (EULAR/ERA-EDTA) recommendations.
Kostopoulou M, Fanouriakis A, Cheema K, Boletis J, Bertsias G, Jayne D, Boumpas DT
RMD Open 2020 Jul;6(2) doi: 10.1136/rmdopen-2020-001263. PMID: 32699043Free PMC Article
Topical analgesics for acute and chronic pain in adults - an overview of Cochrane Reviews.
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
SLC11A1 (NRAMP1) polymorphisms and tuberculosis susceptibility: updated systematic review and meta-analysis.
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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