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Systemic lupus erythematosus, susceptibility to, 6(SLEB6)

MedGen UID:
332086
Concept ID:
C1835919
Finding
Synonym: Systemic lupus erythematosus 6
 
Monarch Initiative: MONDO:0012369
OMIM®: 609939

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]

Clinical features

From HPO
Abnormal renal physiology
MedGen UID:
508816
Concept ID:
C0151746
Pathologic Function
An abnormal functionality of the kidney.
Abnormality of the kidney
MedGen UID:
78593
Concept ID:
C0266292
Congenital Abnormality
An abnormality of the kidney.
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system.
Arthritis
MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
Inflammation of a joint.
Pleuritis
MedGen UID:
10807
Concept ID:
C0032231
Disease or Syndrome
Inflammation of the pleura.
Systemic lupus erythematosus
MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Pericarditis
MedGen UID:
18377
Concept ID:
C0031046
Disease or Syndrome
Inflammation of the sac-like covering around the heart (pericardium).
Antinuclear antibody positivity
MedGen UID:
101792
Concept ID:
C0151480
Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Malar rash
MedGen UID:
75808
Concept ID:
C0277942
Finding
An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.
Abnormality of the immune system
MedGen UID:
867388
Concept ID:
C4021753
Pathologic Function
An abnormality of the immune system.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

Professional guidelines

PubMed

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
Yu MP, Xu XS, Zhou Q, Deuitch N, Lu MP
World J Pediatr 2020 Dec;16(6):575-584. Epub 2019 Oct 5 doi: 10.1007/s12519-019-00288-6. PMID: 31587140
Fanouriakis A, Boumpas DT, Bertsias GK
Curr Opin Rheumatol 2013 Sep;25(5):577-83. doi: 10.1097/BOR.0b013e328363eaf1. PMID: 23836074

Recent clinical studies

Etiology

Yottasan P, Kerr SJ, Veeravigrom M, Siripen N, Rianthavorn P
J Pediatr Nurs 2022 Nov-Dec;67:e58-e64. Epub 2022 Sep 30 doi: 10.1016/j.pedn.2022.09.017. PMID: 36192286
Kamitaki N, Sekar A, Handsaker RE, de Rivera H, Tooley K, Morris DL, Taylor KE, Whelan CW, Tombleson P, Loohuis LMO; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Boehnke M, Kimberly RP, Kaufman KM, Harley JB, Langefeld CD, Seidman CE, Pato MT, Pato CN, Ophoff RA, Graham RR, Criswell LA, Vyse TJ, McCarroll SA
Nature 2020 Jun;582(7813):577-581. Epub 2020 May 11 doi: 10.1038/s41586-020-2277-x. PMID: 32499649Free PMC Article
Song GG, Lee YH
Z Rheumatol 2017 Mar;76(2):176-182. doi: 10.1007/s00393-016-0072-8. PMID: 27067206
Lee YH, Bae SC, Song GG
Rheumatol Int 2015 Jun;35(6):953-61. Epub 2014 Oct 18 doi: 10.1007/s00296-014-3155-3. PMID: 25326335
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Diagnosis

Frémond ML, Crow YJ
J Clin Immunol 2021 Apr;41(3):501-514. Epub 2021 Feb 2 doi: 10.1007/s10875-021-00974-z. PMID: 33532887
Tsokos GC
Nat Immunol 2020 Jun;21(6):605-614. Epub 2020 May 4 doi: 10.1038/s41590-020-0677-6. PMID: 32367037Free PMC Article
Yu MP, Xu XS, Zhou Q, Deuitch N, Lu MP
World J Pediatr 2020 Dec;16(6):575-584. Epub 2019 Oct 5 doi: 10.1007/s12519-019-00288-6. PMID: 31587140
Song GG, Lee YH
Z Rheumatol 2017 Mar;76(2):176-182. doi: 10.1007/s00393-016-0072-8. PMID: 27067206
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Therapy

Xin J, Bao B, Liu J, Ma Z, Zhang M, Bi H, Guo D
Int J Med Sci 2024;21(9):1589-1603. Epub 2024 Jun 3 doi: 10.7150/ijms.94826. PMID: 39006849Free 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
Latasiewicz M, Gourier H, Yusuf IH, Luqmani R, Sharma SM, Downes SM
Eye (Lond) 2017 Jun;31(6):972-976. Epub 2017 Feb 10 doi: 10.1038/eye.2016.297. PMID: 28186509Free PMC Article
Wild EJ, Tabrizi SJ
Pract Neurol 2007 Nov;7(6):360-73. doi: 10.1136/pn.2007.134585. PMID: 18024776
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Prognosis

Du Y, Brodeur KE, Hsu E, Chen L, Chen Q, Liu M, Cheng Q, Rosen S, Michniacki TF, Chou J, Lo MS, Platt CD, Lee PY
J Autoimmun 2023 Nov;140:103119. Epub 2023 Oct 4 doi: 10.1016/j.jaut.2023.103119. PMID: 37797401Free 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
Latasiewicz M, Gourier H, Yusuf IH, Luqmani R, Sharma SM, Downes SM
Eye (Lond) 2017 Jun;31(6):972-976. Epub 2017 Feb 10 doi: 10.1038/eye.2016.297. PMID: 28186509Free 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

Yottasan P, Kerr SJ, Veeravigrom M, Siripen N, Rianthavorn P
J Pediatr Nurs 2022 Nov-Dec;67:e58-e64. Epub 2022 Sep 30 doi: 10.1016/j.pedn.2022.09.017. PMID: 36192286
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
Song GG, Lee YH
Z Rheumatol 2017 Mar;76(2):176-182. doi: 10.1007/s00393-016-0072-8. PMID: 27067206
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
Zhou XJ, Cheng FJ, Zhu L, Lv JC, Qi YY, Hou P, Zhang H
Clin J Am Soc Nephrol 2014 Apr;9(4):788-97. Epub 2014 Jan 23 doi: 10.2215/CJN.01860213. PMID: 24458077Free PMC Article

Recent systematic reviews

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
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
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
Cobo F, Rodríguez-Granger J, López EM, Jiménez G, Sampedro A, Aliaga-Martínez L, Navarro-Marí JM
Infect Dis (Lond) 2017 Feb;49(2):81-94. Epub 2016 Sep 1 doi: 10.1080/23744235.2016.1219456. PMID: 27586845

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