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Systemic lupus erythematosus, susceptibility to, 1(SLEB1)

MedGen UID:
355700
Concept ID:
C1866373
Finding
Synonym: Systemic lupus erythematosus 1
 
Gene (location): TLR5 (1q41)
 
Monarch Initiative: MONDO:0011138
OMIM®: 601744

Definition

SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.

Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.

About a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.

People with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Taubmann J, Müller F, Yalcin Mutlu M, Völkl S, Aigner M, Bozec A, Mackensen A, Grieshaber-Bouyer R, Schett G
Arthritis Rheumatol 2024 Apr;76(4):497-504. Epub 2024 Jan 29 doi: 10.1002/art.42784. PMID: 38114423
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
Anders HJ, Rovin B
Kidney Int 2016 Sep;90(3):493-501. Epub 2016 Jul 1 doi: 10.1016/j.kint.2016.05.017. PMID: 27378475

Recent clinical studies

Etiology

Gao N, Kong M, Li X, Wei D, Zhu X, Hong Z, Ni M, Wang Y, Dong A
Front Immunol 2022;13:908831. Epub 2022 Jun 6 doi: 10.3389/fimmu.2022.908831. PMID: 35734181Free PMC Article
Wang YF, Zhang Y, Lin Z, Zhang H, Wang TY, Cao Y, Morris DL, Sheng Y, Yin X, Zhong SL, Gu X, Lei Y, He J, Wu Q, Shen JJ, Yang J, Lam TH, Lin JH, Mai ZM, Guo M, Tang Y, Chen Y, Song Q, Ban B, Mok CC, Cui Y, Lu L, Shen N, Sham PC, Lau CS, Smith DK, Vyse TJ, Zhang X, Lau YL, Yang W
Nat Commun 2021 Feb 3;12(1):772. doi: 10.1038/s41467-021-21049-y. PMID: 33536424Free PMC Article
Cao Y, Tang W, Tang W
BMC Immunol 2019 Oct 21;20(1):37. doi: 10.1186/s12865-019-0316-x. PMID: 31638917Free PMC Article
Omarjee O, Picard C, Frachette C, Moreews M, Rieux-Laucat F, Soulas-Sprauel P, Viel S, Lega JC, Bader-Meunier B, Walzer T, Mathieu AL, Cimaz R, Belot A
Autoimmun Rev 2019 Oct;18(10):102361. Epub 2019 Aug 8 doi: 10.1016/j.autrev.2019.102361. PMID: 31401343
Sawada T, Fujimori D, Yamamoto Y
Immunol Med 2019 Mar;42(1):1-9. Epub 2019 Jun 17 doi: 10.1080/25785826.2019.1628466. PMID: 31204893

Diagnosis

Huang W, Jin T, Zheng W, Yin Q, Yan Q, Pan H, Xu C
J Autoimmun 2024 May;145:103188. Epub 2024 Mar 7 doi: 10.1016/j.jaut.2024.103188. PMID: 38458076
Frazzei G, van Vollenhoven RF, de Jong BA, Siegelaar SE, van Schaardenburg D
Front Immunol 2022;13:899372. Epub 2022 Jun 30 doi: 10.3389/fimmu.2022.899372. PMID: 35844538Free PMC Article
Gao N, Kong M, Li X, Wei D, Zhu X, Hong Z, Ni M, Wang Y, Dong A
Front Immunol 2022;13:908831. Epub 2022 Jun 6 doi: 10.3389/fimmu.2022.908831. PMID: 35734181Free PMC Article
Charoenngam N
Int J Mol Sci 2021 Oct 1;22(19) doi: 10.3390/ijms221910659. PMID: 34639000Free PMC Article
Bunte K, Beikler T
Int J Mol Sci 2019 Jul 10;20(14) doi: 10.3390/ijms20143394. PMID: 31295952Free PMC Article

Therapy

Huang W, Jin T, Zheng W, Yin Q, Yan Q, Pan H, Xu C
J Autoimmun 2024 May;145:103188. Epub 2024 Mar 7 doi: 10.1016/j.jaut.2024.103188. PMID: 38458076
Li S, Yuan S, Schooling CM, Larsson SC
Sci Rep 2022 Oct 21;12(1):17703. doi: 10.1038/s41598-022-22711-1. PMID: 36271292Free PMC Article
Gao N, Kong M, Li X, Wei D, Zhu X, Hong Z, Ni M, Wang Y, Dong A
Front Immunol 2022;13:908831. Epub 2022 Jun 6 doi: 10.3389/fimmu.2022.908831. PMID: 35734181Free PMC Article
Charoenngam N
Int J Mol Sci 2021 Oct 1;22(19) doi: 10.3390/ijms221910659. PMID: 34639000Free PMC Article
Muhammad Yusoff F, Wong KK, Mohd Redzwan N
Autoimmunity 2020 Feb;53(1):8-20. Epub 2019 Nov 27 doi: 10.1080/08916934.2019.1693545. PMID: 31771364

Prognosis

Zhang F, Jonsson AH, Nathan A, Millard N, Curtis M, Xiao Q, Gutierrez-Arcelus M, Apruzzese W, Watts GFM, Weisenfeld D, Nayar S, Rangel-Moreno J, Meednu N, Marks KE, Mantel I, Kang JB, Rumker L, Mears J, Slowikowski K, Weinand K, Orange DE, Geraldino-Pardilla L, Deane KD, Tabechian D, Ceponis A, Firestein GS, Maybury M, Sahbudin I, Ben-Artzi A, Mandelin AM 2nd, Nerviani A, Lewis MJ, Rivellese F, Pitzalis C, Hughes LB, Horowitz D, DiCarlo E, Gravallese EM, Boyce BF; Accelerating Medicines Partnership: RA/SLE Network, Moreland LW, Goodman SM, Perlman H, Holers VM, Liao KP, Filer A, Bykerk VP, Wei K, Rao DA, Donlin LT, Anolik JH, Brenner MB, Raychaudhuri S
Nature 2023 Nov;623(7987):616-624. Epub 2023 Nov 8 doi: 10.1038/s41586-023-06708-y. PMID: 37938773Free PMC Article
Frazzei G, van Vollenhoven RF, de Jong BA, Siegelaar SE, van Schaardenburg D
Front Immunol 2022;13:899372. Epub 2022 Jun 30 doi: 10.3389/fimmu.2022.899372. PMID: 35844538Free PMC Article
Okada S, Asano T, Moriya K, Boisson-Dupuis S, Kobayashi M, Casanova JL, Puel A
J Clin Immunol 2020 Nov;40(8):1065-1081. Epub 2020 Aug 27 doi: 10.1007/s10875-020-00847-x. PMID: 32852681Free PMC Article
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
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group
Blood 2016 Jun 23;127(25):3154-64. Epub 2016 Apr 25 doi: 10.1182/blood-2015-11-679902. PMID: 27114460Free PMC Article

Clinical prediction guides

Frazzei G, van Vollenhoven RF, de Jong BA, Siegelaar SE, van Schaardenburg D
Front Immunol 2022;13:899372. Epub 2022 Jun 30 doi: 10.3389/fimmu.2022.899372. PMID: 35844538Free PMC Article
Charoenngam N
Int J Mol Sci 2021 Oct 1;22(19) doi: 10.3390/ijms221910659. PMID: 34639000Free PMC Article
Wang YF, Zhang Y, Lin Z, Zhang H, Wang TY, Cao Y, Morris DL, Sheng Y, Yin X, Zhong SL, Gu X, Lei Y, He J, Wu Q, Shen JJ, Yang J, Lam TH, Lin JH, Mai ZM, Guo M, Tang Y, Chen Y, Song Q, Ban B, Mok CC, Cui Y, Lu L, Shen N, Sham PC, Lau CS, Smith DK, Vyse TJ, Zhang X, Lau YL, Yang W
Nat Commun 2021 Feb 3;12(1):772. doi: 10.1038/s41467-021-21049-y. PMID: 33536424Free PMC Article
Yin X, Kim K, Suetsugu H, Bang SY, Wen L, Koido M, Ha E, Liu L, Sakamoto Y, Jo S, Leng RX, Otomo N, Laurynenka V, Kwon YC, Sheng Y, Sugano N, Hwang MY, Li W, Mukai M, Yoon K, Cai M, Ishigaki K, Chung WT, Huang H, Takahashi D, Lee SS, Wang M, Karino K, Shim SC, Zheng X, Miyamura T, Kang YM, Ye D, Nakamura J, Suh CH, Tang Y, Motomura G, Park YB, Ding H, Kuroda T, Choe JY, Li C, Niiro H, Park Y, Shen C, Miyamoto T, Ahn GY, Fei W, Takeuchi T, Shin JM, Li K, Kawaguchi Y, Lee YK, Wang Y, Amano K, Park DJ, Yang W, Tada Y, Yamaji K, Shimizu M, Atsumi T, Suzuki A, Sumida T, Okada Y, Matsuda K, Matsuo K, Kochi Y; Japanese Research Committee on Idiopathic Osteonecrosis of the Femoral Head, Kottyan LC, Weirauch MT, Parameswaran S, Eswar S, Salim H, Chen X, Yamamoto K, Harley JB, Ohmura K, Kim TH, Yang S, Yamamoto T, Kim BJ, Shen N, Ikegawa S, Lee HS, Zhang X, Terao C, Cui Y, Bae SC
Ann Rheum Dis 2021 May;80(5):632-640. Epub 2020 Dec 3 doi: 10.1136/annrheumdis-2020-219209. PMID: 33272962Free PMC Article
Kuhn A, Wenzel J, Bijl M
Semin Immunopathol 2016 Jan;38(1):97-112. Epub 2015 Dec 4 doi: 10.1007/s00281-015-0550-0. PMID: 26637330

Recent systematic reviews

Zheng B, Cai P, Chen Y, Wu Y, Liu H
Medicine (Baltimore) 2023 May 5;102(18):e33700. doi: 10.1097/MD.0000000000033700. PMID: 37145011Free PMC Article
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
Yazdany J, Pooley N, Langham J, Nicholson L, Langham S, Embleton N, Wang X, Desta B, Barut V, Hammond E
RMD Open 2020 Sep;6(2) doi: 10.1136/rmdopen-2020-001247. PMID: 32900883Free PMC Article
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
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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