KEGG   DISEASE: 全身性エリテマトーデス
エントリ  
H00080                                                             
名称    
全身性エリテマトーデス
概要    
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain cytoplasmic components, in association with a diverse array of clinical manifestations. The primary pathological findings in patients with SLE are those of inflammation, vasculitis, immune complex deposition, and vasculopathy. Immune complexes comprising autoantibody and self-antigen is deposited particularly in the renal glomeruli and mediate a systemic inflammatory response by activating complement or via Fc{gamma}R-mediated neutrophil and macrophage activation. Activation of complement (C5) leads to injury both through formation of the membrane attack complex (C5b-9) or by generation of the anaphylatoxin and cell activator C5a. Neutrophils and macrophages cause tissue injury by the release of oxidants and proteases. It has been reported that there is a relatively high genetic component behind SLE. The data of family-based studies point toward an oligogenic background, with several susceptibility genes (SLEB) acting on disease expression along with environmental factors.
カテゴリ  
免疫系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 免疫系疾患
  アレルギーと自己免疫疾患
   H00080  全身性エリテマトーデス
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  非器官特異的全身性自己免疫疾患
   4A40  エリテマトーデス [紅斑性狼瘡]
    H00080  全身性エリテマトーデス
特定疾患 (難病) [jp08407.html]
 H00080
パスウェイ 
hsa05322  全身性エリテマトーデス
関連パスウェイ
hsa04145 Phagosome   
hsa04640 Hematopoietic cell lineage   
hsa04666 Fc gamma R-mediated phagocytosis   
病因遺伝子 
(SLE) PTPN22 [HSA:26191] [KO:K18024]
(SLE) FCGR2A [HSA:2212] [KO:K06472]
(SLE) FCGR2B [HSA:2213] [KO:K12560]
(SLE) CTLA4 [HSA:1493] [KO:K06538]
(SLE) TREX1 [HSA:11277] [KO:K10790]
(SLE) DNASE1 [HSA:1773] [KO:K11994]
(SLEB1) TLR5 [HSA:7100] [KO:K10168]
(SLEB2) PDCD1 [HSA:5133] [KO:K06744]
(SLEB9) CR2 [HSA:1380] [KO:K04012]
(SLEB10) IRF5 [HSA:3663] [KO:K09446]
(SLEB11) STAT4 [HSA:6775] [KO:K11222]
(SLEB16) DNASE1L3 [HSA:1776] [KO:K11995]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
C2 [HSA:717] [KO:K01332]
C4A [HSA:720] [KO:K03989]
TNF [HSA:7124] [KO:K03156]
FCGR3A [HSA:2214] [KO:K06463]
FCGR3B [HSA:2215] [KO:K06463]
CRP [HSA:1401] [KO:K16143]
ZNF423 [HSA:23090] [KO:K22870]
環境要因  
Hydrazines
Procainamide
Chlorpromazine [CPD:C06906 C07952]
Isoniazid [CPD:C07054]
Phenytoin [CPD:C07443]
Penicillamine [CPD:C07418]
Tobacco smoke
Hair dyes
Ultraviolet light
治療薬   
デキサメタゾン [DR:D00292]
デキサメタゾンリン酸エステルナトリウム [DR:D00975]
ベタメタゾンリン酸エステルナトリウム [DR:D00972]
トリアムシノロンアセトニド [DR:D00983]
アルプロスタジル [DR:D00180]
ヒドロコルチゾン [DR:D00088]
ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
コルチゾン酢酸エステル [DR:D00973]
トリアムシノロン [DR:D00385]
ベタメタゾン [DR:D00244]
プレドニゾロン [DR:D00472]
プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
メチルプレドニゾロン [DR:D00407]
メチルプレドニゾロンコハク酸エステルナトリウム [DR:D00751]
メチルプレドニゾロン酢酸エステル [DR:D00979]
ベリムマブ [DR:D03068]
アニフロルマブ [DR:D11082]
アザチオプリン [DR:D00238]
ヒドロキシクロロキン硫酸塩 [DR:D02114]
シクロホスファミド水和物 [DR:D00287]
コメント  
Autoantigen:
Double-stranded DNA [CPD:C00434]
H2A [HSA:474382]
H2B [HSA:8346]
H3 [HSA:3020]
H4 [HSA:8359]
Ro/SS-A [HSA:6737]
La/SS-B [HSA:6741]
Sm-B [HSA:6628]
Sm-D [HSA:6632]
NR2A [HSA:2903]
NR2B [HSA:2904]
Phosphatidyl-serine [CPD:C02737]
C1q [HSA:712]
リンク   
ICD-11: 4A40.0
ICD-10: M32
MeSH: D008180
OMIM: 152700 601744 605218 610927 612251 612253 614420
文献    
PMID:15273934 (PTPN22)
  著者
Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW
  タイトル
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
  雑誌
Am J Hum Genet 75:504-7 (2004)
DOI:10.1086/423790
文献    
PMID:33331924 (FCGR2A)
  著者
Melki I, Allaeys I, Tessandier N, Mailhot B, Cloutier N, Campbell RA, Rowley JW, Salem D, Zufferey A, Laroche A, Levesque T, Patey N, Rauch J, Lood C, Droit A, McKenzie SE, Machlus KR, Rondina MT, Lacroix S, Fortin PR, Boilard E
  タイトル
FcgammaRIIA expression accelerates nephritis and increases platelet activation in systemic lupus erythematosus.
  雑誌
Blood 136:2933-2945 (2020)
DOI:10.1182/blood.2020004974
文献    
PMID:15895258 (FCGR2B)
  著者
Blank MC, Stefanescu RN, Masuda E, Marti F, King PD, Redecha PB, Wurzburger RJ, Peterson MG, Tanaka S, Pricop L
  タイトル
Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus.
  雑誌
Hum Genet 117:220-7 (2005)
DOI:10.1007/s00439-005-1302-3
文献    
PMID:15138458 (CTLA4)
  著者
Barreto M, Santos E, Ferreira R, Fesel C, Fontes MF, Pereira C, Martins B, Andreia R, Viana JF, Crespo F, Vasconcelos C, Ferreira C, Vicente AM
  タイトル
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus.
  雑誌
Eur J Hum Genet 12:620-6 (2004)
DOI:10.1038/sj.ejhg.5201214
文献    
PMID:17660818 (TREX1)
  著者
Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hubner N
  タイトル
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
  雑誌
Nat Genet 39:1065-7 (2007)
DOI:10.1038/ng2091
文献    
PMID:11479590 (DNASE1)
  著者
Yasutomo K, Horiuchi T, Kagami S, Tsukamoto H, Hashimura C, Urushihara M, Kuroda Y
  タイトル
Mutation of DNASE1 in people with systemic lupus erythematosus.
  雑誌
Nat Genet 28:313-4 (2001)
DOI:10.1038/91070
文献    
PMID:16027372 (TLR5)
  著者
Hawn TR, Wu H, Grossman JM, Hahn BH, Tsao BP, Aderem A
  タイトル
A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus.
  雑誌
Proc Natl Acad Sci U S A 102:10593-7 (2005)
DOI:10.1073/pnas.0501165102
文献    
PMID:12402038 (PDCD1)
  著者
Prokunina L, Castillejo-Lopez C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdottir H, Grondal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jonssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcon-Segovia D, Steinsson K, Alarcon-Riquelme ME
  タイトル
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.
  雑誌
Nat Genet 32:666-9 (2002)
DOI:10.1038/ng1020
文献    
PMID:17360460 (CR2)
  著者
Wu H, Boackle SA, Hanvivadhanakul P, Ulgiati D, Grossman JM, Lee Y, Shen N, Abraham LJ, Mercer TR, Park E, Hebert LA, Rovin BH, Birmingham DJ, Chang DM, Chen CJ, McCurdy D, Badsha HM, Thong BY, Chng HH, Arnett FC, Wallace DJ, Yu CY, Hahn BH, Cantor RM, Tsao BP
  タイトル
Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus.
  雑誌
Proc Natl Acad Sci U S A 104:3961-6 (2007)
DOI:10.1073/pnas.0609101104
文献    
PMID:16642019 (IRF5)
  著者
Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, Gonzalez Escribano MF, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martin J, Altshuler D, Behrens TW, Alarcon-Riquelme ME
  タイトル
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.
  雑誌
Nat Genet 38:550-5 (2006)
DOI:10.1038/ng1782
文献    
PMID:19109131 (STAT4)
  著者
Kariuki SN, Kirou KA, MacDermott EJ, Barillas-Arias L, Crow MK, Niewold TB
  タイトル
Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.
  雑誌
J Immunol 182:34-8 (2009)
DOI:10.4049/jimmunol.182.1.34
文献    
PMID:33173951 (DNASE1L3)
  著者
Zervou MI, Andreou A, Matalliotakis M, Spandidos DA, Goulielmos GN, Eliopoulos EE
  タイトル
Association of the DNASE1L3 rs35677470 polymorphism with systemic lupus erythematosus, rheumatoid arthritis and systemic sclerosis: Structural biological insights.
  雑誌
Mol Med Rep 22:4492-4498 (2020)
DOI:10.3892/mmr.2020.11547
文献    
PMID:12835292 (HLA-DRB1, HLA-DQA1, HLA-DQB1)
  著者
Mok CC, Lau CS.
  タイトル
Pathogenesis of systemic lupus erythematosus.
  雑誌
J Clin Pathol 56:481-90 (2003)
DOI:10.1136/jcp.56.7.481
文献    
PMID:18305268 (HLA-DRB1, C2, C4A, TNF, FCGR3A, FCGR3B, CRP, ZNF423)
  著者
Rahman A, Isenberg DA.
  タイトル
Systemic lupus erythematosus.
  雑誌
N Engl J Med 358:929-39 (2008)
DOI:10.1056/NEJMra071297
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