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Polyendocrinopathy

MedGen UID:: 1826133
•Concept ID:: C5681797
•: Disease or Syndrome

Synonym:	polyendocrinopathy

Monarch Initiative:	MONDO:0015126
Orphanet:	ORPHA101956

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPolyendocrinopathy

Polyendocrinopathy

Professional guidelines

PubMed

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Baxter SK, Walsh T, Casadei S, Eckert MM, Allenspach EJ, Hagin D, Segundo G, Lee MK, Gulsuner S, Shirts BH, Sullivan KE, Keller MD, Torgerson TR, King MC
J Allergy Clin Immunol 2022 Jan;149(1):327-339. Epub 2021 Apr 20 doi: 10.1016/j.jaci.2021.04.005. PMID: 33864888 Free PMC Article

IPEX Syndrome: Genetics and Treatment Options.

Ben-Skowronek I
Genes (Basel) 2021 Feb 24;12(3) doi: 10.3390/genes12030323. PMID: 33668198 Free PMC Article

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

See all (24)

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: 38193358 Free PMC Article

Autoinmune polyendocrinopathy.

Fernández Miró M, Colom Comí C, Godoy Lorenzo R
Med Clin (Barc) 2021 Sep 10;157(5):241-246. Epub 2021 May 3 doi: 10.1016/j.medcli.2021.02.004. PMID: 33958142

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 polyglandular syndromes.

Michels AW, Gottlieb PA
Nat Rev Endocrinol 2010 May;6(5):270-7. Epub 2010 Mar 23 doi: 10.1038/nrendo.2010.40. PMID: 20309000

See all (170)

Diagnosis

Human autoantibodies neutralizing type I IFNs: From 1981 to 2023.

FOXP3 deficiency, from the mechanisms of the disease to curative strategies.

Borna S, Meffre E, Bacchetta R
Immunol Rev 2024 Mar;322(1):244-258. Epub 2023 Nov 23 doi: 10.1111/imr.13289. PMID: 37994657

IPEX Syndrome: Genetics and Treatment Options.

Ben-Skowronek I
Genes (Basel) 2021 Feb 24;12(3) doi: 10.3390/genes12030323. PMID: 33668198 Free 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

The SAHA syndrome.

Orfanos CE, Adler YD, Zouboulis CC
Horm Res 2000;54(5-6):251-8. doi: 10.1159/000053267. PMID: 11595813

See all (281)

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

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

Lentiviral vectors for the treatment of primary immunodeficiencies.

Farinelli G, Capo V, Scaramuzza S, Aiuti A
J Inherit Metab Dis 2014 Jul;37(4):525-33. Epub 2014 Mar 12 doi: 10.1007/s10545-014-9690-y. PMID: 24619149

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

Update in neonatal diabetes.

Greeley SA, Tucker SE, Worrell HI, Skowron KB, Bell GI, Philipson LH
Curr Opin Endocrinol Diabetes Obes 2010 Feb;17(1):13-9. doi: 10.1097/MED.0b013e328334f158. PMID: 19952737

See all (101)

Prognosis

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: 37934865 Free PMC Article

Autoinmune polyendocrinopathy.

Fernández Miró M, Colom Comí C, Godoy Lorenzo R
Med Clin (Barc) 2021 Sep 10;157(5):241-246. Epub 2021 May 3 doi: 10.1016/j.medcli.2021.02.004. PMID: 33958142

IPEX Syndrome: Genetics and Treatment Options.

Ben-Skowronek I
Genes (Basel) 2021 Feb 24;12(3) doi: 10.3390/genes12030323. PMID: 33668198 Free PMC Article

Ocular manifestations of autoimmune polyendocrinopathy syndrome type 1.

Couturier A, Brézin AP
Curr Opin Ophthalmol 2016 Nov;27(6):505-513. doi: 10.1097/ICU.0000000000000306. PMID: 27606815

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

See all (128)

Clinical prediction guides

Validation of a murine proteome-wide phage display library for identification of autoantibody specificities.

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

Ocular manifestations of autoimmune polyendocrinopathy syndrome type 1.

Couturier A, Brézin AP
Curr Opin Ophthalmol 2016 Nov;27(6):505-513. doi: 10.1097/ICU.0000000000000306. PMID: 27606815

Thyroid autoimmunity and polyglandular endocrine syndromes.

Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130

The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components.

Vogel A, Strassburg CP, Obermayer-Straub P, Brabant G, Manns MP
J Mol Med (Berl) 2002 Apr;80(4):201-11. Epub 2002 Feb 5 doi: 10.1007/s00109-001-0306-2. PMID: 11976729

See all (154)

Recent systematic reviews

A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.

Hou AN, Wang Y, Pan YQ
J Clin Immunol 2023 Jul;43(5):979-988. Epub 2023 Mar 3 doi: 10.1007/s10875-023-01456-0. PMID: 36867340

Clinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.

Jamee M, Zaki-Dizaji M, Lo B, Abolhassani H, Aghamahdi F, Mosavian M, Nademi Z, Mohammadi H, Jadidi-Niaragh F, Rojas M, Anaya JM, Azizi G
J Allergy Clin Immunol Pract 2020 Sep;8(8):2747-2760.e7. Epub 2020 May 16 doi: 10.1016/j.jaip.2020.04.070. PMID: 32428713

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

Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome.

Ruemmele FM, Moes N, de Serre NP, Rieux-Laucat F, Goulet O
Curr Opin Gastroenterol 2008 Nov;24(6):742-8. doi: 10.1097/MOG.0b013e32830c9022. PMID: 19122524

See all (7)

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Polyendocrinopathy

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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