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Systemic lupus erythematosus, susceptibility to, 10(SLEB10)

MedGen UID:
436859
Concept ID:
C2677097
Finding
Synonym: Systemic lupus erythematosus 10
 
Gene (location): IRF5 (7q32.1)
 
Monarch Initiative: MONDO:0012834
OMIM®: 612251

Definition

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.

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.

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.

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. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Chen L, Wang YF, Liu L, Bielowka A, Ahmed R, Zhang H, Tombleson P, Roberts AL, Odhams CA, Cunninghame Graham DS, Zhang X, Yang W, Vyse TJ, Morris DL
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Kirou KA, Gkrouzman E
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Recent clinical studies

Etiology

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
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Expert Rev Clin Immunol 2023 Jul-Dec;19(10):1247-1258. Epub 2023 Jul 26 doi: 10.1080/1744666X.2023.2240959. PMID: 37496418
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Wang D, Zhang C, Zhou Z, Pei F
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Manson JJ, Rahman A
Orphanet J Rare Dis 2006 Mar 27;1:6. doi: 10.1186/1750-1172-1-6. PMID: 16722594Free PMC Article

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
Wei Q, Wang Z, Liu X, Liang H, Chen L
Genes (Basel) 2023 Sep 23;14(10) doi: 10.3390/genes14101844. PMID: 37895193Free PMC Article
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
Meroni PL, Tsokos GC
Front Immunol 2019;10:199. Epub 2019 Feb 25 doi: 10.3389/fimmu.2019.00199. PMID: 30858846Free PMC Article
Cook L
Microbiol Spectr 2016 Aug;4(4) doi: 10.1128/microbiolspec.DMIH2-0010-2015. PMID: 27726799

Therapy

Morand E, Merola JF, Tanaka Y, Gladman D, Fleischmann R
Nat Rev Rheumatol 2024 Apr;20(4):232-240. Epub 2024 Mar 11 doi: 10.1038/s41584-024-01093-w. PMID: 38467779
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
Wei Q, Wang Z, Liu X, Liang H, Chen L
Genes (Basel) 2023 Sep 23;14(10) doi: 10.3390/genes14101844. PMID: 37895193Free PMC Article
Batu ED
Rheumatol Int 2018 Oct;38(10):1763-1775. Epub 2018 May 15 doi: 10.1007/s00296-018-4048-7. PMID: 29766256
Mak A, Tay SH
Int J Mol Sci 2014 Sep 11;15(9):16043-56. doi: 10.3390/ijms150916043. PMID: 25216337Free PMC Article

Prognosis

Surace AEA, Hedrich CM
Front Immunol 2019;10:1525. Epub 2019 Jul 4 doi: 10.3389/fimmu.2019.01525. PMID: 31333659Free PMC Article
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
Choi MY, Flood K, Bernatsky S, Ramsey-Goldman R, Clarke AE
Best Pract Res Clin Rheumatol 2017 Jun;31(3):373-396. Epub 2017 Nov 10 doi: 10.1016/j.berh.2017.09.013. PMID: 29224679Free PMC Article
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
Manson JJ, Rahman A
Orphanet J Rare Dis 2006 Mar 27;1:6. doi: 10.1186/1750-1172-1-6. PMID: 16722594Free PMC Article

Clinical prediction guides

Azzouz DF, Chen Z, Izmirly PM, Chen LA, Li Z, Zhang C, Mieles D, Trujillo K, Heguy A, Pironti A, Putzel GG, Schwudke D, Fenyo D, Buyon JP, Alekseyenko AV, Gisch N, Silverman GJ
Ann Rheum Dis 2023 Oct;82(10):1315-1327. Epub 2023 Jun 26 doi: 10.1136/ard-2023-223929. PMID: 37365013Free 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
Surace AEA, Hedrich CM
Front Immunol 2019;10:1525. Epub 2019 Jul 4 doi: 10.3389/fimmu.2019.01525. PMID: 31333659Free PMC Article
Jeong DY, Lee SW, Park YH, Choi JH, Kwon YW, Moon G, Eisenhut M, Kronbichler A, Shin JI
Autoimmun Rev 2018 Jun;17(6):553-566. Epub 2018 Apr 7 doi: 10.1016/j.autrev.2017.12.011. PMID: 29635078
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

Recent systematic reviews

Yuan Q, Xing X, Lu Z, Li X
Semin Arthritis Rheum 2020 Oct;50(5):1022-1039. Epub 2020 Jun 17 doi: 10.1016/j.semarthrit.2020.06.004. PMID: 32911280
de Almeida BS, Muniz YCN, Prompt AH, Castelli EC, Mendes-Junior CT, Donadi EA
Hum Immunol 2018 Oct;79(10):724-735. Epub 2018 Aug 11 doi: 10.1016/j.humimm.2018.08.003. PMID: 30102938
Sang GY, Meng CR, Hao YF, Dai JH
Medicine (Baltimore) 2017 Dec;96(51):e9401. doi: 10.1097/MD.0000000000009401. PMID: 29390552Free PMC Article
Catamo E, Addobbati C, Segat L, Sotero Fragoso T, Tavares Dantas A, de Ataide Mariz H, Ferreira da Rocha Junior L, Branco PintoDuarte AL, Coelho AV, de Moura RR, Polesello V, Crovella S, Sandrin Garcia P
Tissue Antigens 2015 Jun;85(6):458-65. Epub 2015 Mar 11 doi: 10.1111/tan.12545. PMID: 25762019
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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