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Autoimmune polyendocrinopathy

MedGen UID:
39042
•Concept ID:
C0085409
•
Disease or Syndrome
Synonyms: Autoimmune Polyendocrinopathy; Polyendocrinopathies, Autoimmune; Polyendocrinopathy, Autoimmune
SNOMED CT: Lloyd's syndrome (41864002); Polyendocrine autoimmunity syndrome (41864002); Autoimmune polyglandular failure (41864002); Autoimmune polyendocrinopathy (41864002); PGA (41864002); APS (41864002); Polyglandular autoimmune syndrome (41864002); Autoimmune polyglandular syndrome (41864002)
 
Monarch Initiative: MONDO:0017278
Orphanet: ORPHA282196

Definition

A group of rare endocrine diseases characterized by autoimmune activity against more than one endocrine organ, with possible additional involvement of non-endocrine organs. Autoimmunity is typically directed against different target antigens in different tissues. The two more common autoimmune polyendocrine syndromes (APS), APS type 1 and type 2, have a strong genetic background and have Addison's disease as a major feature. The group furthermore includes APS type 3 and type 4. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutoimmune polyendocrinopathy
Follow this link to review classifications for Autoimmune polyendocrinopathy in Orphanet.

Professional guidelines

PubMed

APECED-Associated Hepatitis: Clinical, Biochemical, Histological and Treatment Data From a Large, Predominantly American Cohort.
Chascsa DM, Ferré EMN, Hadjiyannis Y, Alao H, Natarajan M, Quinones M, Kleiner DE, Simcox TL, Chitsaz E, Rose SR, Hallgren A, Kampe O, Marko J, Ali RO, Auh S, Koh C, Belkaid Y, Lionakis MS, Heller T
Hepatology 2021 Mar;73(3):1088-1104. doi: 10.1002/hep.31421. PMID: 32557834Free PMC Article
Anti-interferon alpha treatment in SLE.
Kirou KA, Gkrouzman E
Clin Immunol 2013 Sep;148(3):303-12. Epub 2013 Mar 1 doi: 10.1016/j.clim.2013.02.013. PMID: 23566912
Diagnosis and management of polyendocrinopathy syndromes.
Owen CJ, Cheetham TD
Endocrinol Metab Clin North Am 2009 Jun;38(2):419-36, x. doi: 10.1016/j.ecl.2009.01.007. PMID: 19328420

Recent clinical studies

Etiology

Chronic Candidiasis in Children.
Green L, Dolen WK
Curr Allergy Asthma Rep 2017 May;17(5):31. doi: 10.1007/s11882-017-0699-9. PMID: 28429308
Immunogenetics of type 1 diabetes mellitus.
Morran MP, Vonberg A, Khadra A, Pietropaolo M
Mol Aspects Med 2015 Apr;42:42-60. Epub 2015 Jan 8 doi: 10.1016/j.mam.2014.12.004. PMID: 25579746Free PMC Article
Anti-interferon alpha treatment in SLE.
Kirou KA, Gkrouzman E
Clin Immunol 2013 Sep;148(3):303-12. Epub 2013 Mar 1 doi: 10.1016/j.clim.2013.02.013. PMID: 23566912
Gastrointestinal manifestations in APECED syndrome.
Kluger N, Jokinen M, Krohn K, Ranki A
J Clin Gastroenterol 2013 Feb;47(2):112-20. doi: 10.1097/MCG.0b013e31827356e1. PMID: 23314667
The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1.
Lankisch TO, Jaeckel E, Strassburg CP
Semin Liver Dis 2009 Aug;29(3):307-14. Epub 2009 Aug 12 doi: 10.1055/s-0029-1233535. PMID: 19676003

Diagnosis

An AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance.
Ferré EMN, Lionakis MS
Front Immunol 2020;11:609253. Epub 2021 Jan 27 doi: 10.3389/fimmu.2020.609253. PMID: 33584685Free PMC Article
Autoimmune Polyendocrinopathy.
Frommer L, Kahaly GJ
J Clin Endocrinol Metab 2019 Oct 1;104(10):4769-4782. doi: 10.1210/jc.2019-00602. PMID: 31127843
Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
Constantine GM, Lionakis MS
Immunol Rev 2019 Jan;287(1):103-120. doi: 10.1111/imr.12714. PMID: 30565240Free PMC Article
Chronic Candidiasis in Children.
Green L, Dolen WK
Curr Allergy Asthma Rep 2017 May;17(5):31. doi: 10.1007/s11882-017-0699-9. PMID: 28429308
Anticytokine autoantibody-associated immunodeficiency.
Browne SK
Annu Rev Immunol 2014;32:635-57. Epub 2014 Feb 5 doi: 10.1146/annurev-immunol-032713-120222. PMID: 24499273

Therapy

NLRP3 Inhibition Ameliorates Severe Cutaneous Autoimmune Manifestations in a Mouse Model of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy-Like Disease.
Zhu F, Willette-Brown J, Zhang J, Ferre EMN, Sun Z, Wu X, Lionakis MS, Hu Y
J Invest Dermatol 2021 Jun;141(6):1404-1415. Epub 2020 Nov 11 doi: 10.1016/j.jid.2020.10.016. PMID: 33188780Free PMC Article
Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.
Humbert L, Cornu M, Proust-Lemoine E, Bayry J, Wemeau JL, Vantyghem MC, Sendid B
Front Immunol 2018;9:2570. Epub 2018 Nov 19 doi: 10.3389/fimmu.2018.02570. PMID: 30510552Free PMC Article
IL-17 and infections.
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490
Anti-interferon alpha treatment in SLE.
Kirou KA, Gkrouzman E
Clin Immunol 2013 Sep;148(3):303-12. Epub 2013 Mar 1 doi: 10.1016/j.clim.2013.02.013. PMID: 23566912
The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1.
Lankisch TO, Jaeckel E, Strassburg CP
Semin Liver Dis 2009 Aug;29(3):307-14. Epub 2009 Aug 12 doi: 10.1055/s-0029-1233535. PMID: 19676003

Prognosis

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.
Kisand K, Peterson P
J Clin Immunol 2015 Jul;35(5):463-78. Epub 2015 Jul 5 doi: 10.1007/s10875-015-0176-y. PMID: 26141571
Immunogenetics of type 1 diabetes mellitus.
Morran MP, Vonberg A, Khadra A, Pietropaolo M
Mol Aspects Med 2015 Apr;42:42-60. Epub 2015 Jan 8 doi: 10.1016/j.mam.2014.12.004. PMID: 25579746Free PMC Article
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective.
Capalbo D, Improda N, Esposito A, De Martino L, Barbieri F, Betterle C, Pignata C, Salerno M
J Endocrinol Invest 2013 Nov;36(10):903-12. Epub 2013 May 30 doi: 10.3275/8999. PMID: 23723078
Gastrointestinal manifestations in APECED syndrome.
Kluger N, Jokinen M, Krohn K, Ranki A
J Clin Gastroenterol 2013 Feb;47(2):112-20. doi: 10.1097/MCG.0b013e31827356e1. PMID: 23314667
Polyglandular autoimmune syndrome type I.
Proust-Lemoine E, Saugier-Veber P, Wémeau JL
Presse Med 2012 Dec;41(12 P 2):e651-62. Epub 2012 Nov 23 doi: 10.1016/j.lpm.2012.10.005. PMID: 23182677

Clinical prediction guides

Anti-CD45RC antibody immunotherapy prevents and treats experimental autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.
Besnard M, Sérazin C, Ossart J, Moreau A, Vimond N, Flippe L, Sein H, Smith GA, Pittaluga S, Ferré EM, Usal C, Anegon I, Ranki A, Lionakis MS, Peterson P, Guillonneau C
J Clin Invest 2022 Apr 1;132(7) doi: 10.1172/JCI156507. PMID: 35167497Free PMC Article
AIRE deficiency, from preclinical models to human APECED disease.
Besnard M, Padonou F, Provin N, Giraud M, Guillonneau C
Dis Model Mech 2021 Feb 5;14(2) doi: 10.1242/dmm.046359. PMID: 33729987Free PMC Article
Chronic Candidiasis in Children.
Green L, Dolen WK
Curr Allergy Asthma Rep 2017 May;17(5):31. doi: 10.1007/s11882-017-0699-9. PMID: 28429308
IL-17 and infections.
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490
The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1.
Lankisch TO, Jaeckel E, Strassburg CP
Semin Liver Dis 2009 Aug;29(3):307-14. Epub 2009 Aug 12 doi: 10.1055/s-0029-1233535. PMID: 19676003

Recent systematic reviews

Clinical, immunological, and genetic features in 938 patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a systematic review.
Sharifinejad N, Zaki-Dizaji M, Tebyanian S, Zainaldain H, Jamee M, Rizvi FS, Hosseinzadeh S, Fayyaz F, Hamedifar H, Sabzevari A, Matloubi M, Heropolitańska-Pliszka E, Aghamahdi F, Abolhassani H, Azizi G
Expert Rev Clin Immunol 2021 Aug;17(8):807-817. Epub 2021 Jun 3 doi: 10.1080/1744666X.2021.1925543. PMID: 33957837
Autoimmune Polyendocrinopathy.
Frommer L, Kahaly GJ
J Clin Endocrinol Metab 2019 Oct 1;104(10):4769-4782. doi: 10.1210/jc.2019-00602. PMID: 31127843
AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review.
Colobran R, Giménez-Barcons M, Marín-Sánchez A, Porta-Pardo E, Pujol-Borrell R
Hum Immunol 2016 Aug;77(8):643-651. Epub 2016 Jun 4 doi: 10.1016/j.humimm.2016.06.002. PMID: 27266815

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