U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.

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. [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

Qian J, Chen Y, Yang X, Wang Q, Zhao J, Deng X, Ding Y, Li S, Liu Y, Tian Z, Shen J, Liao Q, Wang Y, Zuo X, Zhang X, Li M, Cui Y, Yu X, Zeng X
Arthritis Rheumatol 2023 Dec;75(12):2207-2215. Epub 2023 Oct 24 doi: 10.1002/art.42641. PMID: 37382296
Boeltz S, Hagen M, Knopf J, Mahajan A, Schick M, Zhao Y, Erfurt-Berge C, Rech J, Muñoz LE, Herrmann M
Semin Immunopathol 2019 Nov;41(6):681-697. Epub 2019 Nov 6 doi: 10.1007/s00281-019-00760-5. PMID: 31696251
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
Kelley RE
Front Biosci 2004 Jan 1;9:946-55. doi: 10.2741/1259. PMID: 14766421

Diagnosis

Qian J, Chen Y, Yang X, Wang Q, Zhao J, Deng X, Ding Y, Li S, Liu Y, Tian Z, Shen J, Liao Q, Wang Y, Zuo X, Zhang X, Li M, Cui Y, Yu X, Zeng X
Arthritis Rheumatol 2023 Dec;75(12):2207-2215. Epub 2023 Oct 24 doi: 10.1002/art.42641. PMID: 37382296
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

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
Schurder J, Goulenok T, Jouenne R, Dossier A, Van Gysel D, Papo T, Sacre K
Joint Bone Spine 2018 May;85(3):333-336. Epub 2017 May 18 doi: 10.1016/j.jbspin.2017.05.012. PMID: 28529115
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

Qian J, Chen Y, Yang X, Wang Q, Zhao J, Deng X, Ding Y, Li S, Liu Y, Tian Z, Shen J, Liao Q, Wang Y, Zuo X, Zhang X, Li M, Cui Y, Yu X, Zeng X
Arthritis Rheumatol 2023 Dec;75(12):2207-2215. Epub 2023 Oct 24 doi: 10.1002/art.42641. PMID: 37382296
Lee YH, Song GG
Lupus 2023 Jul;32(8):964-973. Epub 2023 Jun 2 doi: 10.1177/09612033231180695. PMID: 37265090
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
Kelley RE
Front Biosci 2004 Jan 1;9:946-55. doi: 10.2741/1259. PMID: 14766421

Clinical prediction guides

Lee YH, Song GG
Lupus 2023 Jul;32(8):964-973. Epub 2023 Jun 2 doi: 10.1177/09612033231180695. PMID: 37265090
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
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
Goulielmos GN, Zervou MI, Vazgiourakis VM, Ghodke-Puranik Y, Garyfallos A, Niewold TB
Gene 2018 Aug 20;668:59-72. Epub 2018 May 25 doi: 10.1016/j.gene.2018.05.041. PMID: 29775752
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

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...