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Systemic lupus erythematosus, susceptibility to, 11(SLEB11)

MedGen UID:
393656
•Concept ID:
C2677096
•
Finding
Synonym: Systemic lupus erythematosus 11
 
Gene (location): STAT4 (2q32.2-32.3)
 
Monarch Initiative: MONDO:0012835
OMIM®: 612253

Definition

Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene. [from MONDO]

Professional guidelines

PubMed

De novo lupus nephritis during treatment with belimumab.
Parodis I, Vital EM, Hassan SU, Jönsen A, Bengtsson AA, Eriksson P, Leonard D, Gunnarsson I, Rönnblom L, Sjöwall C
Rheumatology (Oxford) 2021 Sep 1;60(9):4348-4354. doi: 10.1093/rheumatology/keaa796. PMID: 33341888Free PMC Article
Value of HLA-DR genotype in systemic lupus erythematosus and lupus nephritis: a meta-analysis.
Niu Z, Zhang P, Tong Y
Int J Rheum Dis 2015 Jan;18(1):17-28. Epub 2014 Dec 26 doi: 10.1111/1756-185X.12528. PMID: 25546242
Evaluation of genetic association between an ITGAM non-synonymous SNP (rs1143679) and multiple autoimmune diseases.
Anaya JM, Kim-Howard X, Prahalad S, Cherñavsky A, Cañas C, Rojas-Villarraga A, Bohnsack J, Jonsson R, Bolstad AI, Brun JG, Cobb B, Moser KL, James JA, Harley JB, Nath SK
Autoimmun Rev 2012 Feb;11(4):276-80. Epub 2011 Aug 5 doi: 10.1016/j.autrev.2011.07.007. PMID: 21840425Free PMC Article

Recent clinical studies

Etiology

Genetic predisposition between coronavirus disease 2019 and rheumatic diseases: A 2-sample Mendelian randomization study.
Quan L, Tan J, Hua L, You X
Int J Rheum Dis 2023 Apr;26(4):710-717. Epub 2023 Mar 8 doi: 10.1111/1756-185X.14624. PMID: 36890668
Relationship of miRNA-146a to systemic lupus erythematosus: A PRISMA-compliant meta-analysis.
Fan Y, Ji Y, Wang X, Hu J, Zhang Q, Xu J, Liu W, Wang A
Medicine (Baltimore) 2020 Oct 2;99(40):e22444. doi: 10.1097/MD.0000000000022444. PMID: 33019429Free PMC Article
Sex Differences in Pediatric Rheumatology.
Cattalini M, Soliani M, Caparello MC, Cimaz R
Clin Rev Allergy Immunol 2019 Jun;56(3):293-307. doi: 10.1007/s12016-017-8642-3. PMID: 28849549
TLR9 polymorphisms and systemic lupus erythematosus risk: an update meta-analysis study.
Wang D, Zhang C, Zhou Z, Pei F
Rheumatol Int 2016 Apr;36(4):585-95. Epub 2015 Dec 7 doi: 10.1007/s00296-015-3404-0. PMID: 26643792
Genetics and novel aspects of therapies in systemic lupus erythematosus.
Relle M, Weinmann-Menke J, Scorletti E, Cavagna L, Schwarting A
Autoimmun Rev 2015 Nov;14(11):1005-18. Epub 2015 Jul 9 doi: 10.1016/j.autrev.2015.07.003. PMID: 26164648

Diagnosis

Genetic predisposition between coronavirus disease 2019 and rheumatic diseases: A 2-sample Mendelian randomization study.
Quan L, Tan J, Hua L, You X
Int J Rheum Dis 2023 Apr;26(4):710-717. Epub 2023 Mar 8 doi: 10.1111/1756-185X.14624. PMID: 36890668
Epigenetic Alterations in Immune Cells of Systemic Lupus Erythematosus and Therapeutic Implications.
Adams DE, Shao WH
Cells 2022 Feb 1;11(3) doi: 10.3390/cells11030506. PMID: 35159315Free PMC Article
Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases.
Ota M, Nagafuchi Y, Hatano H, Ishigaki K, Terao C, Takeshima Y, Yanaoka H, Kobayashi S, Okubo M, Shirai H, Sugimori Y, Maeda J, Nakano M, Yamada S, Yoshida R, Tsuchiya H, Tsuchida Y, Akizuki S, Yoshifuji H, Ohmura K, Mimori T, Yoshida K, Kurosaka D, Okada M, Setoguchi K, Kaneko H, Ban N, Yabuki N, Matsuki K, Mutoh H, Oyama S, Okazaki M, Tsunoda H, Iwasaki Y, Sumitomo S, Shoda H, Kochi Y, Okada Y, Yamamoto K, Okamura T, Fujio K
Cell 2021 May 27;184(11):3006-3021.e17. Epub 2021 May 1 doi: 10.1016/j.cell.2021.03.056. PMID: 33930287
MAP4K Family Kinases and DUSP Family Phosphatases in T-Cell Signaling and Systemic Lupus Erythematosus.
Chuang HC, Tan TH
Cells 2019 Nov 13;8(11) doi: 10.3390/cells8111433. PMID: 31766293Free PMC Article
TLR9 polymorphisms and systemic lupus erythematosus risk: an update meta-analysis study.
Wang D, Zhang C, Zhou Z, Pei F
Rheumatol Int 2016 Apr;36(4):585-95. Epub 2015 Dec 7 doi: 10.1007/s00296-015-3404-0. PMID: 26643792

Therapy

Genetic predisposition between coronavirus disease 2019 and rheumatic diseases: A 2-sample Mendelian randomization study.
Quan L, Tan J, Hua L, You X
Int J Rheum Dis 2023 Apr;26(4):710-717. Epub 2023 Mar 8 doi: 10.1111/1756-185X.14624. PMID: 36890668
Autophagy in Rheumatic Diseases: Role in the Pathogenesis and Therapeutic Approaches.
Celia AI, Colafrancesco S, Barbati C, Alessandri C, Conti F
Cells 2022 Apr 15;11(8) doi: 10.3390/cells11081359. PMID: 35456038Free PMC Article
Sex Differences in Pediatric Rheumatology.
Cattalini M, Soliani M, Caparello MC, Cimaz R
Clin Rev Allergy Immunol 2019 Jun;56(3):293-307. doi: 10.1007/s12016-017-8642-3. PMID: 28849549
Genetics and novel aspects of therapies in systemic lupus erythematosus.
Relle M, Weinmann-Menke J, Scorletti E, Cavagna L, Schwarting A
Autoimmun Rev 2015 Nov;14(11):1005-18. Epub 2015 Jul 9 doi: 10.1016/j.autrev.2015.07.003. PMID: 26164648
Molecular therapies for systemic lupus erythematosus: clinical trials and future prospects.
Monneaux F, Muller S
Arthritis Res Ther 2009;11(3):234. Epub 2009 Jun 30 doi: 10.1186/ar2711. PMID: 19591653Free PMC Article

Prognosis

Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.
Grosjean I, Roméo B, Domdom MA, Belaid A, D'Andréa G, Guillot N, Gherardi RK, Gal J, Milano G, Marquette CH, Hung RJ, Landi MT, Han Y, Brest P, Von Bergen M, Klionsky DJ, Amos CI, Hofman P, Mograbi B
Autophagy 2022 Nov;18(11):2519-2536. Epub 2022 Apr 6 doi: 10.1080/15548627.2022.2039994. PMID: 35383530Free PMC Article
Epigenetic Alterations in Immune Cells of Systemic Lupus Erythematosus and Therapeutic Implications.
Adams DE, Shao WH
Cells 2022 Feb 1;11(3) doi: 10.3390/cells11030506. PMID: 35159315Free PMC Article
MAP4K Family Kinases and DUSP Family Phosphatases in T-Cell Signaling and Systemic Lupus Erythematosus.
Chuang HC, Tan TH
Cells 2019 Nov 13;8(11) doi: 10.3390/cells8111433. PMID: 31766293Free PMC Article
Sex Differences in Pediatric Rheumatology.
Cattalini M, Soliani M, Caparello MC, Cimaz R
Clin Rev Allergy Immunol 2019 Jun;56(3):293-307. doi: 10.1007/s12016-017-8642-3. PMID: 28849549
Updates in Lupus Genetics.
Deng Y, Tsao BP
Curr Rheumatol Rep 2017 Oct 5;19(11):68. doi: 10.1007/s11926-017-0695-z. PMID: 28983873

Clinical prediction guides

PheWAS and cross-disorder analysis reveal genetic architecture, pleiotropic loci and phenotypic correlations across 11 autoimmune disorders.
Topaloudi A, Jain P, Martinez MB, Bryant JK, Reynolds G, Zagoriti Z, Lagoumintzis G, Zamba-Papanicolaou E, Tzartos J, Poulas K, Kleopa KA, Tzartos S, Georgitsi M, Drineas P, Paschou P
Front Immunol 2023;14:1147573. Epub 2023 Sep 21 doi: 10.3389/fimmu.2023.1147573. PMID: 37809097Free PMC Article
Genetic predisposition between coronavirus disease 2019 and rheumatic diseases: A 2-sample Mendelian randomization study.
Quan L, Tan J, Hua L, You X
Int J Rheum Dis 2023 Apr;26(4):710-717. Epub 2023 Mar 8 doi: 10.1111/1756-185X.14624. PMID: 36890668
Epigenetic Alterations in Immune Cells of Systemic Lupus Erythematosus and Therapeutic Implications.
Adams DE, Shao WH
Cells 2022 Feb 1;11(3) doi: 10.3390/cells11030506. PMID: 35159315Free PMC Article
Updates in Lupus Genetics.
Deng Y, Tsao BP
Curr Rheumatol Rep 2017 Oct 5;19(11):68. doi: 10.1007/s11926-017-0695-z. PMID: 28983873
TLR9 polymorphisms and systemic lupus erythematosus risk: an update meta-analysis study.
Wang D, Zhang C, Zhou Z, Pei F
Rheumatol Int 2016 Apr;36(4):585-95. Epub 2015 Dec 7 doi: 10.1007/s00296-015-3404-0. PMID: 26643792

Recent systematic reviews

Systemic Connective Tissue Disease and Neuromyelitis Optica Spectrum Disorder Coexistence: A Systematic Review and Meta-Analysis.
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
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
Association of IRF5 rs2004640 polymorphism and systemic lupus erythematosus: A meta-analysis.
Wang JM, Huang AF, Yuan ZC, Su LC, Xu WD
Int J Rheum Dis 2019 Sep;22(9):1598-1606. Epub 2019 Jul 25 doi: 10.1111/1756-185X.13654. PMID: 31347288
Relationship between angiotensin-converting enzyme insertion/deletion gene polymorphism and systemic lupus erythematosus/lupus nephritis: a systematic review and metaanalysis.
Zhou TB, Liu YG, Lin N, Qin YH, Huang K, Shao MB, Peng DD
J Rheumatol 2012 Apr;39(4):686-93. Epub 2012 Feb 15 doi: 10.3899/jrheum.110863. PMID: 22337243
Associations between TLR polymorphisms and systemic lupus erythematosus: a systematic review and meta-analysis.
Lee YH, Lee HS, Choi SJ, Ji JD, Song GG
Clin Exp Rheumatol 2012 Mar-Apr;30(2):262-5. Epub 2012 Apr 13 PMID: 22325161

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