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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)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
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
Laboratory or Test Result
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

Recent clinical studies

Etiology

Seppälä LK, Madanat-Harjuoja LM, Troisi R, Sampson JN, Leinonen MK, Vettenranta K
Acta Paediatr 2021 Jul;110(7):2259-2266. Epub 2021 Mar 8 doi: 10.1111/apa.15821. PMID: 33638889Free PMC Article
Baldursdóttir TR, Löve ÞJ, Gíslason GK, Björkholm M, Mellqvist UH, Lund SH, Blimark CH, Turesson I, Hultcrantz M, Landgren O, Kristinsson SY
Eur J Haematol 2021 Mar;106(3):380-388. Epub 2020 Dec 28 doi: 10.1111/ejh.13563. PMID: 33295006
Jacob S, Rahbari K, Tegtmeyer K, Zhao J, Tran S, Helenowski I, Zhang H, Walunas T, Varga J, Dematte J, Villaflor V
JAMA Netw Open 2020 Dec 1;3(12):e2029917. doi: 10.1001/jamanetworkopen.2020.29917. PMID: 33315114Free PMC Article
Chang R, Chu KA, Lin MC, Chu YH, Hung YM, Wei JC
Curr Med Res Opin 2020 Jun;36(6):985-992. Epub 2020 Apr 14 doi: 10.1080/03007995.2020.1748585. PMID: 32223346
Miller-Archie SA, Izmirly PM, Berman JR, Brite J, Walker DJ, Dasilva RC, Petrsoric LJ, Cone JE
Arthritis Rheumatol 2020 May;72(5):849-859. Epub 2020 Apr 1 doi: 10.1002/art.41175. PMID: 31762219Free PMC Article

Diagnosis

Seppälä LK, Madanat-Harjuoja LM, Troisi R, Sampson JN, Leinonen MK, Vettenranta K
Acta Paediatr 2021 Jul;110(7):2259-2266. Epub 2021 Mar 8 doi: 10.1111/apa.15821. PMID: 33638889Free PMC Article
Baldursdóttir TR, Löve ÞJ, Gíslason GK, Björkholm M, Mellqvist UH, Lund SH, Blimark CH, Turesson I, Hultcrantz M, Landgren O, Kristinsson SY
Eur J Haematol 2021 Mar;106(3):380-388. Epub 2020 Dec 28 doi: 10.1111/ejh.13563. PMID: 33295006
Jacob S, Rahbari K, Tegtmeyer K, Zhao J, Tran S, Helenowski I, Zhang H, Walunas T, Varga J, Dematte J, Villaflor V
JAMA Netw Open 2020 Dec 1;3(12):e2029917. doi: 10.1001/jamanetworkopen.2020.29917. PMID: 33315114Free PMC Article
Chang R, Chu KA, Lin MC, Chu YH, Hung YM, Wei JC
Curr Med Res Opin 2020 Jun;36(6):985-992. Epub 2020 Apr 14 doi: 10.1080/03007995.2020.1748585. PMID: 32223346
Miller-Archie SA, Izmirly PM, Berman JR, Brite J, Walker DJ, Dasilva RC, Petrsoric LJ, Cone JE
Arthritis Rheumatol 2020 May;72(5):849-859. Epub 2020 Apr 1 doi: 10.1002/art.41175. PMID: 31762219Free PMC Article

Therapy

Chang R, Chu KA, Lin MC, Chu YH, Hung YM, Wei JC
Curr Med Res Opin 2020 Jun;36(6):985-992. Epub 2020 Apr 14 doi: 10.1080/03007995.2020.1748585. PMID: 32223346
Yasunaga M
Semin Cancer Biol 2020 Aug;64:1-12. Epub 2019 Jun 7 doi: 10.1016/j.semcancer.2019.06.001. PMID: 31181267
Tison A, Quéré G, Misery L, Funck-Brentano E, Danlos FX, Routier E, Robert C, Loriot Y, Lambotte O, Bonniaud B, Scalbert C, Maanaoui S, Lesimple T, Martinez S, Marcq M, Chouaid C, Dubos C, Brunet-Possenti F, Stavris C, Chiche L, Beneton N, Mansard S, Guisier F, Doubre H, Skowron F, Aubin F, Zehou O, Roge C, Lambert M, Pham-Ledard A, Beylot-Barry M, Veillon R, Kramkimel N, Giacchero D, De Quatrebarbes J, Michel C, Auliac JB, Gonzales G, Decroisette C, Le Garff G, Carpiuc I, Vallerand H, Nowak E, Cornec D, Kostine M; Groupe de Cancérologie Cutanée, Groupe Français de Pneumo-Cancérologie, and Club Rhumatismes et Inflammations.
Arthritis Rheumatol 2019 Dec;71(12):2100-2111. Epub 2019 Oct 21 doi: 10.1002/art.41068. PMID: 31379105
Oker N, Julien-Laferrière A, Herman P, Chevaillier G
J Voice 2019 May;33(3):357-362. Epub 2017 Dec 11 doi: 10.1016/j.jvoice.2017.11.001. PMID: 29242051
Baillargeon J, Al Snih S, Raji MA, Urban RJ, Sharma G, Sheffield-Moore M, Lopez DS, Baillargeon G, Kuo YF
Clin Rheumatol 2016 Dec;35(12):2983-2987. Epub 2016 Jun 20 doi: 10.1007/s10067-016-3330-x. PMID: 27325124Free PMC Article

Prognosis

Jacob S, Rahbari K, Tegtmeyer K, Zhao J, Tran S, Helenowski I, Zhang H, Walunas T, Varga J, Dematte J, Villaflor V
JAMA Netw Open 2020 Dec 1;3(12):e2029917. doi: 10.1001/jamanetworkopen.2020.29917. PMID: 33315114Free PMC Article
Yasunaga M
Semin Cancer Biol 2020 Aug;64:1-12. Epub 2019 Jun 7 doi: 10.1016/j.semcancer.2019.06.001. PMID: 31181267
Chuang HC, Tan TH
J Biomed Sci 2019 Oct 22;26(1):82. doi: 10.1186/s12929-019-0570-5. PMID: 31640697Free PMC Article
Tison A, Quéré G, Misery L, Funck-Brentano E, Danlos FX, Routier E, Robert C, Loriot Y, Lambotte O, Bonniaud B, Scalbert C, Maanaoui S, Lesimple T, Martinez S, Marcq M, Chouaid C, Dubos C, Brunet-Possenti F, Stavris C, Chiche L, Beneton N, Mansard S, Guisier F, Doubre H, Skowron F, Aubin F, Zehou O, Roge C, Lambert M, Pham-Ledard A, Beylot-Barry M, Veillon R, Kramkimel N, Giacchero D, De Quatrebarbes J, Michel C, Auliac JB, Gonzales G, Decroisette C, Le Garff G, Carpiuc I, Vallerand H, Nowak E, Cornec D, Kostine M; Groupe de Cancérologie Cutanée, Groupe Français de Pneumo-Cancérologie, and Club Rhumatismes et Inflammations.
Arthritis Rheumatol 2019 Dec;71(12):2100-2111. Epub 2019 Oct 21 doi: 10.1002/art.41068. PMID: 31379105
Ahn SS, Hwang SH, Jung SM, Lee SW, Park YB, Yun M, Song JJ
J Nucl Med 2017 Mar;58(3):507-513. Epub 2016 Sep 29 doi: 10.2967/jnumed.116.180729. PMID: 27688472

Clinical prediction guides

Chuang HC, Tan TH
J Biomed Sci 2019 Oct 22;26(1):82. doi: 10.1186/s12929-019-0570-5. PMID: 31640697Free PMC Article
Sheth M, Benedum CM, Celi LA, Mark RG, Markuzon N
Crit Care 2019 Mar 18;23(1):93. doi: 10.1186/s13054-019-2357-1. PMID: 30885252Free PMC Article
Oker N, Julien-Laferrière A, Herman P, Chevaillier G
J Voice 2019 May;33(3):357-362. Epub 2017 Dec 11 doi: 10.1016/j.jvoice.2017.11.001. PMID: 29242051
Ahn SS, Hwang SH, Jung SM, Lee SW, Park YB, Yun M, Song JJ
J Nucl Med 2017 Mar;58(3):507-513. Epub 2016 Sep 29 doi: 10.2967/jnumed.116.180729. PMID: 27688472
Howley MM, Browne ML, Van Zutphen AR, Richardson SD, Blossom SJ, Broussard CS, Carmichael SL, Druschel CM; National Birth Defects Prevention Study.
Birth Defects Res A Clin Mol Teratol 2016 Nov;106(11):950-962. doi: 10.1002/bdra.23527. PMID: 27891777Free PMC Article

Recent systematic reviews

Chen M, Jiang Q, Zhang L
Ann Palliat Med 2021 Jan;10(1):350-361. Epub 2021 Jan 11 doi: 10.21037/apm-20-2293. PMID: 33440965
Reynolds AC, Marshall NS, Hill CL, Adams RJ
Sleep Med Rev 2020 Feb;49:101232. Epub 2019 Nov 14 doi: 10.1016/j.smrv.2019.101232. PMID: 31911367
Abdel-Wahab N, Shah M, Lopez-Olivo MA, Suarez-Almazor ME
Ann Intern Med 2018 Jan 16;168(2):121-130. Epub 2018 Jan 2 doi: 10.7326/M17-2073. PMID: 29297009
Marrie RA, Reider N, Cohen J, Stuve O, Sorensen PS, Cutter G, Reingold SC, Trojano M
Mult Scler 2015 Mar;21(3):282-93. Epub 2014 Dec 22 doi: 10.1177/1352458514564490. PMID: 25533299Free PMC Article
Kriegel MA, Manson JE, Costenbader KH
Semin Arthritis Rheum 2011 Jun;40(6):512-531.e8. Epub 2010 Nov 2 doi: 10.1016/j.semarthrit.2010.07.009. PMID: 21047669Free PMC Article

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