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Systemic lupus erythematosus, susceptibility to, 9(SLEB9)

MedGen UID:
369736
Concept ID:
C1970455
Finding
Synonyms: CR2-Related Susceptibility to Systemic Lupus Erythematosus; Systemic lupus erythematosus 9
 
Gene (location): CR2 (1q32.2)
 
Monarch Initiative: MONDO:0012584
OMIM®: 610927

Definition

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.

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. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Tanaka Y, O'Neill S, Li M, Tsai IC, Yang YW
Arthritis Care Res (Hoboken) 2022 Feb;74(2):187-198. Epub 2022 Jan 10 doi: 10.1002/acr.24431. PMID: 32841537
Xu M, Liu Y, Li X, Cheng C, Liu Y, Dong W, Du S, Xiao S
Sci Rep 2019 Jul 17;9(1):10335. doi: 10.1038/s41598-019-46827-z. PMID: 31316132Free PMC Article
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

Recent clinical studies

Etiology

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
Malkiel S, Barlev AN, Atisha-Fregoso Y, Suurmond J, Diamond B
Front Immunol 2018;9:427. Epub 2018 Mar 5 doi: 10.3389/fimmu.2018.00427. PMID: 29556239Free PMC Article
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
Kiss E, Kovacs L, Szodoray P
Autoimmun Rev 2010 Feb;9(4):195-9. Epub 2009 Jul 27 doi: 10.1016/j.autrev.2009.07.004. PMID: 19643208Free PMC Article
Kelley RE
Front Biosci 2004 Jan 1;9:946-55. doi: 10.2741/1259. PMID: 14766421

Diagnosis

Cas MD, Roda G, Li F, Secundo F
Int J Mol Sci 2020 Apr 27;21(9) doi: 10.3390/ijms21093074. PMID: 32349258Free PMC Article
Malkiel S, Barlev AN, Atisha-Fregoso Y, Suurmond J, Diamond B
Front Immunol 2018;9:427. Epub 2018 Mar 5 doi: 10.3389/fimmu.2018.00427. PMID: 29556239Free PMC Article
Margery-Muir AA, Bundell C, Nelson D, Groth DM, Wetherall JD
Autoimmun Rev 2017 Mar;16(3):258-268. Epub 2017 Jan 27 doi: 10.1016/j.autrev.2017.01.007. PMID: 28137478
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
Kelley RE
Front Biosci 2004 Jan 1;9:946-55. doi: 10.2741/1259. PMID: 14766421

Therapy

Chen Y, Chen B, Shen X, Zhou A, Liang Y, Wang Y, Chen H
Front Public Health 2022;10:1018899. Epub 2022 Dec 20 doi: 10.3389/fpubh.2022.1018899. PMID: 36605245Free PMC Article
Wang H, Zhou Y, Yu L, Wu W, Zhao L, Geng S, Sun F, Zhang D, Shen N, Chen Y, Ye S
Lupus Sci Med 2022 Aug;9(1) doi: 10.1136/lupus-2022-000725. PMID: 36041813Free 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
Mak A, Tay SH
Int J Mol Sci 2014 Sep 11;15(9):16043-56. doi: 10.3390/ijms150916043. PMID: 25216337Free PMC Article
Kiss E, Kovacs L, Szodoray P
Autoimmun Rev 2010 Feb;9(4):195-9. Epub 2009 Jul 27 doi: 10.1016/j.autrev.2009.07.004. PMID: 19643208Free PMC Article

Prognosis

Wang SS
Semin Hematol 2023 Nov;60(5):255-266. Epub 2023 Nov 27 doi: 10.1053/j.seminhematol.2023.11.004. PMID: 38242772Free 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
Margery-Muir AA, Bundell C, Nelson D, Groth DM, Wetherall JD
Autoimmun Rev 2017 Mar;16(3):258-268. Epub 2017 Jan 27 doi: 10.1016/j.autrev.2017.01.007. PMID: 28137478
Kiss E, Kovacs L, Szodoray P
Autoimmun Rev 2010 Feb;9(4):195-9. Epub 2009 Jul 27 doi: 10.1016/j.autrev.2009.07.004. PMID: 19643208Free PMC Article
Kelley RE
Front Biosci 2004 Jan 1;9:946-55. doi: 10.2741/1259. PMID: 14766421

Clinical prediction guides

Wang SS
Semin Hematol 2023 Nov;60(5):255-266. Epub 2023 Nov 27 doi: 10.1053/j.seminhematol.2023.11.004. PMID: 38242772Free PMC Article
Bossini-Castillo L, Villanueva-Martin G, Kerick M, Acosta-Herrera M, López-Isac E, Simeón CP, Ortego-Centeno N, Assassi S; International SSc Group; Australian Scleroderma Interest Group (ASIG); PRECISESADS Clinical Consortium; PRECISESADS Flow Cytometry study group, Hunzelmann N, Gabrielli A, de Vries-Bouwstra JK, Allanore Y, Fonseca C, Denton CP, Radstake TR, Alarcón-Riquelme ME, Beretta L, Mayes MD, Martin J
Ann Rheum Dis 2021 Jan;80(1):118-127. Epub 2020 Oct 1 doi: 10.1136/annrheumdis-2020-218558. PMID: 33004331
Kim SJ, Lee K, Diamond B
Front Immunol 2018;9:1793. Epub 2018 Aug 3 doi: 10.3389/fimmu.2018.01793. PMID: 30123218Free PMC Article
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
Richardson B
Nat Clin Pract Rheumatol 2007 Sep;3(9):521-7. doi: 10.1038/ncprheum0573. PMID: 17762851

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
Ebrahimiyan H, Mostafaei S, Aslani S, Faezi ST, Farhadi E, Jamshidi A, Mahmoudi M
Clin Exp Med 2022 Aug;22(3):427-438. Epub 2021 Sep 14 doi: 10.1007/s10238-021-00758-0. PMID: 34519938
Abd Talib AKA, Tan SC, Jamal R, Azizan EA, Shaharir SS, Abdul Murad NA
Med J Malaysia 2021 Jul;76(4):541-550. PMID: 34305116
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
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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