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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); APS - autoimmune polyglandular syndrome (41864002); Autoimmune polyendocrinopathy (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

Human autoantibodies neutralizing type I IFNs: From 1981 to 2023.
Bastard P, Gervais A, Le Voyer T, Philippot Q, Cobat A, Rosain J, Jouanguy E, Abel L, Zhang SY, Zhang Q, Puel A, Casanova JL
Immunol Rev 2024 Mar;322(1):98-112. Epub 2024 Jan 9 doi: 10.1111/imr.13304. PMID: 38193358Free PMC Article
French-Canadian families from Saguenay-Lac-Saint-Jean: a new founder population for APECED.
Cruz Marino T, Villeneuve H, Leblanc J, Duranceau C, Caron P, Morin C, Milot M, Chrétien R, Gagnon MM, Mathieu J, Ellezam B, Buhas D
Endocrine 2022 Jan;75(1):48-58. Epub 2021 Nov 30 doi: 10.1007/s12020-021-02826-7. PMID: 34846681
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
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
Autoimmune polyendocrinopathy--candidiasis--ectodermal dystrophy (APECED).
Perheentupa J
Horm Metab Res 1996 Jul;28(7):353-6. doi: 10.1055/s-2007-979814. PMID: 8858385

Diagnosis

Human autoantibodies neutralizing type I IFNs: From 1981 to 2023.
Bastard P, Gervais A, Le Voyer T, Philippot Q, Cobat A, Rosain J, Jouanguy E, Abel L, Zhang SY, Zhang Q, Puel A, Casanova JL
Immunol Rev 2024 Mar;322(1):98-112. Epub 2024 Jan 9 doi: 10.1111/imr.13304. PMID: 38193358Free PMC Article
Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations.
Borna Š, Lee E, Nideffer J, Ramachandran A, Wang B, Baker J, Mavers M, Lakshmanan U, Narula M, Garrett AK, Schulze J, Olek S, Marois L, Gernez Y, Bhatia M, Chong HJ, Walter J, Kitcharoensakkul M, Lang A, Cooper MA, Bertaina A, Roncarolo MG, Meffre E, Bacchetta R
Sci Transl Med 2023 Dec 20;15(727):eadg6822. doi: 10.1126/scitranslmed.adg6822. PMID: 38117899Free PMC Article
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and esophageal rupture by candida infection: A case report and review.
Domingues-Ferreira M, Vasconcelos DM, Bezerra TA, Bertolini DL, Barros NC, Auler ME
J Mycol Med 2022 Aug;32(3):101293. Epub 2022 May 10 doi: 10.1016/j.mycmed.2022.101293. PMID: 35597148
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
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

JAK Inhibition Immunotherapy for APS-1.
Su MA
N Engl J Med 2024 May 30;390(20):1918-1921. doi: 10.1056/NEJMe2403419. PMID: 38810191
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
Oikonomou V, Smith G, Constantine GM, Schmitt MM, Ferré EMN, Alejo JC, Riley D, Kumar D, Dos Santos Dias L, Pechacek J, Hadjiyannis Y, Webb T, Seifert BA, Ghosh R, Walkiewicz M, Martin D, Besnard M, Snarr BD, Deljookorani S, Lee CR, DiMaggio T, Barber P, Rosen LB, Cheng A, Rastegar A, de Jesus AA, Stoddard J, Kuehn HS, Break TJ, Kong HH, Castelo-Soccio L, Colton B, Warner BM, Kleiner DE, Quezado MM, Davis JL, Fennelly KP, Olivier KN, Rosenzweig SD, Suffredini AF, Anderson MS, Swidergall M, Guillonneau C, Notarangelo LD, Goldbach-Mansky R, Neth O, Monserrat-Garcia MT, Valverde-Fernandez J, Lucena JM, Gomez-Gila AL, Garcia Rojas A, Seppänen MRJ, Lohi J, Hero M, Laakso S, Klemetti P, Lundberg V, Ekwall O, Olbrich P, Winer KK, Afzali B, Moutsopoulos NM, Holland SM, Heller T, Pittaluga S, Lionakis MS
N Engl J Med 2024 May 30;390(20):1873-1884. doi: 10.1056/NEJMoa2312665. PMID: 38810185Free 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

Prognosis

Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations.
Borna Š, Lee E, Nideffer J, Ramachandran A, Wang B, Baker J, Mavers M, Lakshmanan U, Narula M, Garrett AK, Schulze J, Olek S, Marois L, Gernez Y, Bhatia M, Chong HJ, Walter J, Kitcharoensakkul M, Lang A, Cooper MA, Bertaina A, Roncarolo MG, Meffre E, Bacchetta R
Sci Transl Med 2023 Dec 20;15(727):eadg6822. doi: 10.1126/scitranslmed.adg6822. PMID: 38117899Free PMC Article
Validation of a murine proteome-wide phage display library for identification of autoantibody specificities.
Rackaityte E, Proekt I, Miller HS, Ramesh A, Brooks JF, Kung AF, Mandel-Brehm C, Yu D, Zamecnik CR, Bair R, Vazquez SE, Sunshine S, Abram CL, Lowell CA, Rizzuto G, Wilson MR, Zikherman J, Anderson MS, DeRisi JL
JCI Insight 2023 Dec 8;8(23) doi: 10.1172/jci.insight.174976. PMID: 37934865Free PMC Article
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
Autoimmune polyendocrinopathy--candidiasis--ectodermal dystrophy (APECED).
Perheentupa J
Horm Metab Res 1996 Jul;28(7):353-6. doi: 10.1055/s-2007-979814. PMID: 8858385
Juvenile autoimmune polyendocrinopathy.
Brun JM
Horm Res 1982;16(5):308-16. doi: 10.1159/000179519. PMID: 7173823

Clinical prediction guides

Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients with FOXP3 mutations.
Borna Š, Lee E, Nideffer J, Ramachandran A, Wang B, Baker J, Mavers M, Lakshmanan U, Narula M, Garrett AK, Schulze J, Olek S, Marois L, Gernez Y, Bhatia M, Chong HJ, Walter J, Kitcharoensakkul M, Lang A, Cooper MA, Bertaina A, Roncarolo MG, Meffre E, Bacchetta R
Sci Transl Med 2023 Dec 20;15(727):eadg6822. doi: 10.1126/scitranslmed.adg6822. PMID: 38117899Free PMC Article
Validation of a murine proteome-wide phage display library for identification of autoantibody specificities.
Rackaityte E, Proekt I, Miller HS, Ramesh A, Brooks JF, Kung AF, Mandel-Brehm C, Yu D, Zamecnik CR, Bair R, Vazquez SE, Sunshine S, Abram CL, Lowell CA, Rizzuto G, Wilson MR, Zikherman J, Anderson MS, DeRisi JL
JCI Insight 2023 Dec 8;8(23) doi: 10.1172/jci.insight.174976. PMID: 37934865Free 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
AIRE acetylation and deacetylation: effect on protein stability and transactivation activity.
Incani F, Serra M, Meloni A, Cossu C, Saba L, Cabras T, Messana I, Rosatelli MC
J Biomed Sci 2014 Aug 27;21(1):85. doi: 10.1186/s12929-014-0085-z. PMID: 25158603Free PMC Article

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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