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Autoimmune polyendocrinopathy type 3

MedGen UID:
453060
•Concept ID:
C1535942
•
Disease or Syndrome
Synonyms: Autoimmune Polyglandular Syndrome Type III; Autoimmune Polyglandular Syndrome, Type 3; Autoimmune Syndrome Type III, Polyglandular; Polyglandular Autoimmune Syndrome, Type 3; Polyglandular Type III Autoimmune Syndrome
SNOMED CT: Autoimmune polyendocrine syndrome type 3 (449731009)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Non-Mendelian inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016422
Orphanet: ORPHA227982

Definition

A rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutoimmune polyendocrinopathy type 3

Professional guidelines

PubMed

IPEX Syndrome: Genetics and Treatment Options.
Ben-Skowronek I
Genes (Basel) 2021 Feb 24;12(3) doi: 10.3390/genes12030323. PMID: 33668198Free 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
Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.
Capalbo D, Mazza C, Giordano R, Improda N, Arvat E, Cervato S, Morlin L, Pignata C, Betterle C, Salerno M
J Endocrinol Invest 2012 Feb;35(2):169-73. Epub 2011 Apr 20 doi: 10.3275/7677. PMID: 21508664

Recent clinical studies

Etiology

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
Autoimmune Diseases in Patients with Premature Ovarian Insufficiency-Our Current State of Knowledge.
Szeliga A, Calik-Ksepka A, Maciejewska-Jeske M, Grymowicz M, Smolarczyk K, Kostrzak A, Smolarczyk R, Rudnicka E, Meczekalski B
Int J Mol Sci 2021 Mar 5;22(5) doi: 10.3390/ijms22052594. PMID: 33807517Free PMC Article
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
Autoimmune hepatitis.
Obermayer-Straub P, Strassburg CP, Manns MP
J Hepatol 2000;32(1 Suppl):181-97. doi: 10.1016/s0168-8278(00)80425-0. PMID: 10728804
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

Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.
Gruper Y, Wolff ASB, Glanz L, Spoutil F, Marthinussen MC, Osickova A, Herzig Y, Goldfarb Y, Aranaz-Novaliches G, Dobeš J, Kadouri N, Ben-Nun O, Binyamin A, Lavi B, Givony T, Khalaila R, Gome T, Wald T, Mrazkova B, Sochen C, Besnard M, Ben-Dor S, Feldmesser E, Orlova EM, Hegedűs C, Lampé I, Papp T, Felszeghy S, Sedlacek R, Davidovich E, Tal N, Shouval DS, Shamir R, Guillonneau C, Szondy Z, Lundin KEA, Osicka R, Prochazka J, Husebye ES, Abramson J
Nature 2023 Dec;624(7992):653-662. Epub 2023 Nov 22 doi: 10.1038/s41586-023-06776-0. PMID: 37993717
Type 3 autoimmune polyglandular syndrome (APS-3) or type 3 multiple autoimmune syndrome (MAS-3): an expanding galaxy.
Betterle C, Furmaniak J, Sabbadin C, Scaroni C, Presotto F
J Endocrinol Invest 2023 Apr;46(4):643-665. Epub 2023 Jan 7 doi: 10.1007/s40618-022-01994-1. PMID: 36609775
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: 33668198Free PMC Article
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

Therapy

Rituximab as Maintenance Therapy in Type 1 Autoimmune Pancreatitis: An Italian Experience.
De Marchi G, de Pretis N, Gabrieletto EM, Amodio A, Davì V, Crinò SF, Gabbrielli A, Ciccocioppo R, Frulloni L
Pancreas 2021 Nov-Dec 01;50(10):1363-1367. doi: 10.1097/MPA.0000000000001925. PMID: 35041334
Levothyroxine and insulin requirement in autoimmune polyglandular type 3 syndrome: a real-life study.
Guarnotta V, Pillitteri G, Gambino G, Radellini S, Vigneri E, Pizzolanti G, Giordano C
J Endocrinol Invest 2021 Jul;44(7):1387-1394. Epub 2020 Oct 24 doi: 10.1007/s40618-020-01421-3. PMID: 33099763Free PMC Article
Prevalence of other autoimmune diseases in polyglandular autoimmune syndromes type II and III.
Pham-Dobor G, Hanák L, Hegyi P, Márta K, Párniczky A, Gergics M, Sarlós P, Erőss B, Mezősi E
J Endocrinol Invest 2020 Sep;43(9):1-9. Epub 2020 Aug 17 doi: 10.1007/s40618-020-01229-1. PMID: 32227311Free 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
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

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: 33668198Free PMC Article
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
Autoimmune hepatitis.
Obermayer-Straub P, Strassburg CP, Manns MP
J Hepatol 2000;32(1 Suppl):181-97. doi: 10.1016/s0168-8278(00)80425-0. PMID: 10728804
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

Clinical prediction guides

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
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
The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Bin Dhuban K, Piccirillo CA
Curr Opin Allergy Clin Immunol 2015 Dec;15(6):525-32. doi: 10.1097/ACI.0000000000000214. PMID: 26485097
Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.
Couturier A, Saugier-Veber P, Carel JC, Bertherat J, Brézin AP
Cornea 2015 Sep;34(9):1086-91. doi: 10.1097/ICO.0000000000000513. PMID: 26114819
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

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
Autoimmune polyendocrine syndrome induced by immune checkpoint inhibitors: a systematic review.
Zhao Z, Wang X, Bao XQ, Ning J, Shang M, Zhang D
Cancer Immunol Immunother 2021 Jun;70(6):1527-1540. Epub 2020 Nov 16 doi: 10.1007/s00262-020-02699-1. PMID: 33200250Free PMC Article
Prevalence of other autoimmune diseases in polyglandular autoimmune syndromes type II and III.
Pham-Dobor G, Hanák L, Hegyi P, Márta K, Párniczky A, Gergics M, Sarlós P, Erőss B, Mezősi E
J Endocrinol Invest 2020 Sep;43(9):1-9. Epub 2020 Aug 17 doi: 10.1007/s40618-020-01229-1. PMID: 32227311Free PMC Article

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