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Systemic lupus erythematosus, susceptibility to, 2(SLEB2)

MedGen UID:
343159
Concept ID:
C1854577
Finding
Synonym: Systemic lupus erythematosus 2
 
Gene (location): PDCD1 (2q37.3)
 
Monarch Initiative: MONDO:0011520
OMIM®: 605218

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

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
Jiang J, Zhao M, Chang C, Wu H, Lu Q
Clin Rev Allergy Immunol 2020 Oct;59(2):248-272. doi: 10.1007/s12016-020-08798-2. PMID: 32557263

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
Yuan ZC, Xu WD, Lan YY, Wang JM, Wu Q, Zhou J, Huang AF
Int J Rheum Dis 2021 Feb;24(2):147-158. Epub 2020 Nov 4 doi: 10.1111/1756-185X.14017. PMID: 33146461
Gergianaki I, Bortoluzzi A, Bertsias G
Best Pract Res Clin Rheumatol 2018 Apr;32(2):188-205. Epub 2018 Sep 27 doi: 10.1016/j.berh.2018.09.004. PMID: 30527426
Chen LY, Shi ZR, Tan GZ, Han YF, Tang ZQ, Wang L
Lupus 2018 Apr;27(5):716-721. Epub 2017 Oct 31 doi: 10.1177/0961203317739133. PMID: 29087262
Gustafsson JT, Svenungsson E
Autoimmunity 2014 Mar;47(2):67-76. Epub 2013 Nov 14 doi: 10.3109/08916934.2013.856005. PMID: 24228980

Diagnosis

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
Allen ME, Rus V, Szeto GL
Trends Mol Med 2021 Feb;27(2):152-171. Epub 2020 Oct 9 doi: 10.1016/j.molmed.2020.09.009. PMID: 33046407Free PMC Article
Aringer M
J Autoimmun 2020 Jun;110:102374. Epub 2019 Dec 4 doi: 10.1016/j.jaut.2019.102374. PMID: 31812331
Gergianaki I, Bortoluzzi A, Bertsias G
Best Pract Res Clin Rheumatol 2018 Apr;32(2):188-205. Epub 2018 Sep 27 doi: 10.1016/j.berh.2018.09.004. PMID: 30527426
Cook L
Microbiol Spectr 2016 Aug;4(4) doi: 10.1128/microbiolspec.DMIH2-0010-2015. PMID: 27726799

Therapy

Han X, Gharahkhani P, Hamel AR, Ong JS, Rentería ME, Mehta P, Dong X, Pasutto F, Hammond C, Young TL, Hysi P, Lotery AJ, Jorgenson E, Choquet H, Hauser M, Cooke Bailey JN, Nakazawa T, Akiyama M, Shiga Y, Fuller ZL, Wang X, Hewitt AW, Craig JE, Pasquale LR, Mackey DA, Wiggs JL, Khawaja AP, Segrè AV; 23andMe Research Team; International Glaucoma Genetics Consortium, MacGregor S
Nat Genet 2023 Jul;55(7):1116-1125. Epub 2023 Jun 29 doi: 10.1038/s41588-023-01428-5. PMID: 37386247Free 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
Liang CL, Jiang H, Feng W, Liu H, Han L, Chen Y, Zhang Q, Zheng F, Lu CJ, Dai Z
Front Immunol 2021;12:683249. Epub 2021 Jul 5 doi: 10.3389/fimmu.2021.683249. PMID: 34290705Free 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
He Y, Sawalha AH
Curr Opin Rheumatol 2018 Sep;30(5):490-497. doi: 10.1097/BOR.0000000000000522. PMID: 29870500Free PMC Article

Prognosis

Rudbaek JJ, Agrawal M, Torres J, Mehandru S, Colombel JF, Jess T
Nat Rev Gastroenterol Hepatol 2024 Feb;21(2):86-100. Epub 2023 Nov 10 doi: 10.1038/s41575-023-00854-4. PMID: 37950021Free PMC Article
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
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
Gómez-Bañuelos E, Fava A, Andrade F
Curr Opin Rheumatol 2023 Mar 1;35(2):61-67. Epub 2022 Dec 22 doi: 10.1097/BOR.0000000000000922. PMID: 36695053Free PMC Article
Gergianaki I, Bortoluzzi A, Bertsias G
Best Pract Res Clin Rheumatol 2018 Apr;32(2):188-205. Epub 2018 Sep 27 doi: 10.1016/j.berh.2018.09.004. PMID: 30527426

Clinical prediction guides

Ren M, Yu H, Xiao B, Zhao Y, Yan J, Liu J
Brain Behav 2024 Feb;14(2):e3417. doi: 10.1002/brb3.3417. PMID: 38346716Free PMC Article
Zhang Y, Zhu Y, Ye M, Mao Y, Zhan Y
Lupus 2023 Sep;32(10):1222-1226. Epub 2023 Aug 19 doi: 10.1177/09612033231195953. PMID: 37596879
Mok CC, Chu CS, Tse SM
Lupus 2023 Jun;32(7):893-899. Epub 2023 May 12 doi: 10.1177/09612033231175280. PMID: 37173871Free PMC Article
Aringer M
J Autoimmun 2020 Jun;110:102374. Epub 2019 Dec 4 doi: 10.1016/j.jaut.2019.102374. PMID: 31812331
He Y, Sawalha AH
Curr Opin Rheumatol 2018 Sep;30(5):490-497. doi: 10.1097/BOR.0000000000000522. PMID: 29870500Free PMC Article

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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