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Autoimmune disease

MedGen UID:
2135
Concept ID:
C0004364
Disease or Syndrome
Synonym: Autoimmune Diseases
SNOMED CT: Autoimmune disease (85828009); Autoimmune disorder (85828009)
 
Monarch Initiative: MONDO:0007179
OMIM®: 109100

Definition

A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). [from NCI]

Clinical features

From HPO
Autoimmunity
MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Autoimmune antibody positivity
MedGen UID:
868268
Concept ID:
C4022660
Finding
The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutoimmune disease

Professional guidelines

PubMed

Radu AF, Bungau SG
Cells 2021 Oct 23;10(11) doi: 10.3390/cells10112857. PMID: 34831081Free PMC Article
Lin YJ, Anzaghe M, Schülke S
Cells 2020 Apr 3;9(4) doi: 10.3390/cells9040880. PMID: 32260219Free PMC Article
Fava A, Petri M
J Autoimmun 2019 Jan;96:1-13. Epub 2018 Nov 16 doi: 10.1016/j.jaut.2018.11.001. PMID: 30448290Free PMC Article

Recent clinical studies

Etiology

Kooshesh KA, Foy BH, Sykes DB, Gustafsson K, Scadden DT
N Engl J Med 2023 Aug 3;389(5):406-417. doi: 10.1056/NEJMoa2302892. PMID: 37530823Free PMC Article
Pisetsky DS
Nat Rev Nephrol 2023 Aug;19(8):509-524. Epub 2023 May 10 doi: 10.1038/s41581-023-00720-1. PMID: 37165096Free PMC Article
Harroud A, Hafler DA
Science 2023 May 5;380(6644):485-490. Epub 2023 May 4 doi: 10.1126/science.adg2992. PMID: 37141355
Hahn J, Cook NR, Alexander EK, Friedman S, Walter J, Bubes V, Kotler G, Lee IM, Manson JE, Costenbader KH
BMJ 2022 Jan 26;376:e066452. doi: 10.1136/bmj-2021-066452. PMID: 35082139Free PMC Article
Wang L, Wang FS, Gershwin ME
J Intern Med 2015 Oct;278(4):369-95. Epub 2015 Jul 25 doi: 10.1111/joim.12395. PMID: 26212387

Diagnosis

Pisetsky DS
Nat Rev Nephrol 2023 Aug;19(8):509-524. Epub 2023 May 10 doi: 10.1038/s41581-023-00720-1. PMID: 37165096Free PMC Article
Gray PE, David C
J Allergy Clin Immunol Pract 2023 Jun;11(6):1602-1622. Epub 2023 Apr 28 doi: 10.1016/j.jaip.2023.04.018. PMID: 37119983
Brito-Zerón P, Pérez-Álvarez R, Ramos-Casals M
Med Clin (Barc) 2022 Aug 26;159(4):195-204. Epub 2022 Jun 6 doi: 10.1016/j.medcli.2022.03.009. PMID: 35680449
Xiao ZX, Miller JS, Zheng SG
Autoimmun Rev 2021 Feb;20(2):102743. Epub 2020 Dec 14 doi: 10.1016/j.autrev.2020.102743. PMID: 33333232
Wang L, Wang FS, Gershwin ME
J Intern Med 2015 Oct;278(4):369-95. Epub 2015 Jul 25 doi: 10.1111/joim.12395. PMID: 26212387

Therapy

Rosmarin D, Passeron T, Pandya AG, Grimes P, Harris JE, Desai SR, Lebwohl M, Ruer-Mulard M, Seneschal J, Wolkerstorfer A, Kornacki D, Sun K, Butler K, Ezzedine K; TRuE-V Study Group
N Engl J Med 2022 Oct 20;387(16):1445-1455. doi: 10.1056/NEJMoa2118828. PMID: 36260792
Seror R, Nocturne G, Mariette X
Nat Rev Rheumatol 2021 Aug;17(8):475-486. Epub 2021 Jun 29 doi: 10.1038/s41584-021-00634-x. PMID: 34188206
Lee DSW, Rojas OL, Gommerman JL
Nat Rev Drug Discov 2021 Mar;20(3):179-199. Epub 2020 Dec 15 doi: 10.1038/s41573-020-00092-2. PMID: 33324003Free PMC Article
Pisetsky DS, Lipsky PE
Nat Rev Rheumatol 2020 Oct;16(10):565-579. Epub 2020 Sep 3 doi: 10.1038/s41584-020-0480-7. PMID: 32884126Free PMC Article
Chellappan DK, Sivam NS, Teoh KX, Leong WP, Fui TZ, Chooi K, Khoo N, Yi FJ, Chellian J, Cheng LL, Dahiya R, Gupta G, Singhvi G, Nammi S, Hansbro PM, Dua K
Biomed Pharmacother 2018 Dec;108:1188-1200. Epub 2018 Oct 2 doi: 10.1016/j.biopha.2018.09.138. PMID: 30372820

Prognosis

Wu D, Luo Y, Li T, Zhao X, Lv T, Fang G, Ou P, Li H, Luo X, Huang A, Pang Y
Front Immunol 2022;13:1051082. Epub 2022 Dec 22 doi: 10.3389/fimmu.2022.1051082. PMID: 36618407Free PMC Article
Hahn J, Cook NR, Alexander EK, Friedman S, Walter J, Bubes V, Kotler G, Lee IM, Manson JE, Costenbader KH
BMJ 2022 Jan 26;376:e066452. doi: 10.1136/bmj-2021-066452. PMID: 35082139Free PMC Article
Barber MRW, Drenkard C, Falasinnu T, Hoi A, Mak A, Kow NY, Svenungsson E, Peterson J, Clarke AE, Ramsey-Goldman R
Nat Rev Rheumatol 2021 Sep;17(9):515-532. Epub 2021 Aug 3 doi: 10.1038/s41584-021-00668-1. PMID: 34345022Free PMC Article
Bubuioc AM, Kudebayeva A, Turuspekova S, Lisnic V, Leone MA
J Med Life 2021 Jan-Mar;14(1):7-16. doi: 10.25122/jml-2020-0145. PMID: 33767779Free PMC Article
Stojan G, Petri M
Curr Opin Rheumatol 2018 Mar;30(2):144-150. doi: 10.1097/BOR.0000000000000480. PMID: 29251660Free PMC Article

Clinical prediction guides

Abdelhafiz D, Baker T, Glascow DA, Abdelhafiz A
Postgrad Med 2023 Apr;135(3):214-223. Epub 2022 Mar 16 doi: 10.1080/00325481.2022.2052626. PMID: 35275765
Genovese C, LA Fauci V, Squeri A, Trimarchi G, Squeri R
J Prev Med Hyg 2018 Sep;59(3):E194-E199. Epub 2018 Sep 28 doi: 10.15167/2421-4248/jpmh2018.59.3.998. PMID: 30397675Free PMC Article
McAdoo SP, Pusey CD
Clin J Am Soc Nephrol 2017 Jul 7;12(7):1162-1172. Epub 2017 May 17 doi: 10.2215/CJN.01380217. PMID: 28515156Free PMC Article
Rose NR
Am J Epidemiol 2016 Mar 1;183(5):403-6. Epub 2016 Feb 17 doi: 10.1093/aje/kwv292. PMID: 26888748
Wang L, Wang FS, Gershwin ME
J Intern Med 2015 Oct;278(4):369-95. Epub 2015 Jul 25 doi: 10.1111/joim.12395. PMID: 26212387

Recent systematic reviews

Yuan S, Wang L, Zhang H, Xu F, Zhou X, Yu L, Sun J, Chen J, Ying H, Xu X, Yu Y, Spiliopoulou A, Shen X, Wilson J, Gill D, Theodoratou E, Larsson SC, Li X
EBioMedicine 2023 Mar;89:104488. Epub 2023 Feb 24 doi: 10.1016/j.ebiom.2023.104488. PMID: 36842216Free PMC Article
Osowiecka K, Myszkowska-Ryciak J
Nutrients 2023 Feb 20;15(4) doi: 10.3390/nu15041041. PMID: 36839399Free PMC Article
Kaegi C, Wuest B, Schreiner J, Steiner UC, Vultaggio A, Matucci A, Crowley C, Boyman O
Front Immunol 2019;10:1990. Epub 2019 Sep 6 doi: 10.3389/fimmu.2019.01990. PMID: 31555262Free PMC Article
Shigesi N, Kvaskoff M, Kirtley S, Feng Q, Fang H, Knight JC, Missmer SA, Rahmioglu N, Zondervan KT, Becker CM
Hum Reprod Update 2019 Jul 1;25(4):486-503. doi: 10.1093/humupd/dmz014. PMID: 31260048Free PMC Article
Sanna A, Firinu D, Zavattari P, Valera P
Nutrients 2018 Jan 11;10(1) doi: 10.3390/nu10010068. PMID: 29324654Free PMC Article

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