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Autoimmune polyendocrinopathy type 4

MedGen UID:
757804
•Concept ID:
C3266026
•
Disease or Syndrome
Synonyms: APS type 4; APS4; Autoimmune polyendocrine syndrome type 4; autoimmune polyendocrine syndrome type 4; autoimmune polyendocrinopathy type 4; Autoimmune polyglandular syndrome type 4; autoimmune polyglandular syndrome type 4
SNOMED CT: Autoimmune polyendocrine syndrome type 4 (449730005)
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:0016423
Orphanet: ORPHA227990

Definition

A rare autoimmune polyendocrinopathy characterized by autoimmune activity against an endocrine organ in combination with at least one more endocrine or non-endocrine organ. Typical autoimmune diseases occurring in this type include insulin-requiring diabetes, pernicious anemia, alopecia, vitiligo, or myasthenia gravis, but not Addison disease, thyroid disease, or hypoparathyroidism. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutoimmune polyendocrinopathy type 4

Professional guidelines

PubMed

ICPis-Induced Autoimmune Polyendocrine Syndrome Type 2: A Review of the Literature and a Protocol for Optimal Management.
Shi Y, Shen M, Zheng X, Chen Y, Zhao R, Gu Y, Yang T
J Clin Endocrinol Metab 2020 Dec 1;105(12) doi: 10.1210/clinem/dgaa553. PMID: 32905579
Premature ovarian failure in patients with autoimmune Addison's disease: clinical, genetic, and immunological evaluation.
Reato G, Morlin L, Chen S, Furmaniak J, Smith BR, Masiero S, Albergoni MP, Cervato S, Zanchetta R, Betterle C
J Clin Endocrinol Metab 2011 Aug;96(8):E1255-61. Epub 2011 Jun 15 doi: 10.1210/jc.2011-0414. PMID: 21677034
Clinical review: Type 1 diabetes-associated autoimmunity: natural history, genetic associations, and screening.
Barker JM
J Clin Endocrinol Metab 2006 Apr;91(4):1210-7. Epub 2006 Jan 10 doi: 10.1210/jc.2005-1679. PMID: 16403820

Recent clinical studies

Etiology

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
Autoimmune polyglandular syndrome type 4: experience from a single reference center.
Gatta E, Anelli V, Cimino E, Di Lodovico E, Piovani E, Zammarchi I, Gozzoli G, Maltese V, Cavadini M, Agosti B, Delbarba A, Pirola I, Girelli A, Buoso C, Bambini F, Alfieri D, Bremi W, Facondo P, Lupo R, Bezzi F, Fredi M, Mazzola AM, Gandossi E, Saullo M, Marini F, Licini M, Pezzaioli LC, Pini L, Franceschini F, Ricci C, Cappelli C
Front Endocrinol (Lausanne) 2023;14:1236878. Epub 2023 Oct 23 doi: 10.3389/fendo.2023.1236878. PMID: 37937054Free 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
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
ICPis-Induced Autoimmune Polyendocrine Syndrome Type 2: A Review of the Literature and a Protocol for Optimal Management.
Shi Y, Shen M, Zheng X, Chen Y, Zhao R, Gu Y, Yang T
J Clin Endocrinol Metab 2020 Dec 1;105(12) doi: 10.1210/clinem/dgaa553. PMID: 32905579

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
Autoimmune polyglandular syndrome type 4: experience from a single reference center.
Gatta E, Anelli V, Cimino E, Di Lodovico E, Piovani E, Zammarchi I, Gozzoli G, Maltese V, Cavadini M, Agosti B, Delbarba A, Pirola I, Girelli A, Buoso C, Bambini F, Alfieri D, Bremi W, Facondo P, Lupo R, Bezzi F, Fredi M, Mazzola AM, Gandossi E, Saullo M, Marini F, Licini M, Pezzaioli LC, Pini L, Franceschini F, Ricci C, Cappelli C
Front Endocrinol (Lausanne) 2023;14:1236878. Epub 2023 Oct 23 doi: 10.3389/fendo.2023.1236878. PMID: 37937054Free PMC Article
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
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

Therapy

Adult-Onset Autoimmune Enteropathy in an European Tertiary Referral Center.
van Wanrooij RLJ, Neefjes-Borst EA, Bontkes HJ, Schreurs MWJ, Langerak AW, Mulder CJJ, Bouma G
Clin Transl Gastroenterol 2021 Aug 1;12(8):e00387. doi: 10.14309/ctg.0000000000000387. PMID: 34333499Free PMC Article
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: 33200250
ICPis-Induced Autoimmune Polyendocrine Syndrome Type 2: A Review of the Literature and a Protocol for Optimal Management.
Shi Y, Shen M, Zheng X, Chen Y, Zhao R, Gu Y, Yang T
J Clin Endocrinol Metab 2020 Dec 1;105(12) doi: 10.1210/clinem/dgaa553. PMID: 32905579
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
Target proteins in human autoimmunity: cytochromes P450 and UDP- glucuronosyltransferases.
Obermayer-Straub P, Strassburg CP, Manns MP
Can J Gastroenterol 2000 May;14(5):429-39. doi: 10.1155/2000/910107. PMID: 10851284

Prognosis

Pubertal development and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a retrospective study.
Träskilä E, Holopainen E, Mäyränpää MI, Toppari J, Mäkitie O, Laakso S
Eur J Endocrinol 2023 Apr 4;188(4):K17-K23. doi: 10.1093/ejendo/lvad034. PMID: 36917647
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
Type I Diabetes is the Main Cost Driver in Autoimmune Polyendocrinopathy.
Radermacher LK, Ponto K, Merkesdal S, Pomart V, Frommer L, Pfeiffer N, König J, Kahaly GJ
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgz021. PMID: 31529067
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
Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction.
Betterle C, Dal Pra C, Mantero F, Zanchetta R
Endocr Rev 2002 Jun;23(3):327-64. doi: 10.1210/edrv.23.3.0466. PMID: 12050123

Clinical prediction guides

Autoimmune polyglandular syndrome type 4: experience from a single reference center.
Gatta E, Anelli V, Cimino E, Di Lodovico E, Piovani E, Zammarchi I, Gozzoli G, Maltese V, Cavadini M, Agosti B, Delbarba A, Pirola I, Girelli A, Buoso C, Bambini F, Alfieri D, Bremi W, Facondo P, Lupo R, Bezzi F, Fredi M, Mazzola AM, Gandossi E, Saullo M, Marini F, Licini M, Pezzaioli LC, Pini L, Franceschini F, Ricci C, Cappelli C
Front Endocrinol (Lausanne) 2023;14:1236878. Epub 2023 Oct 23 doi: 10.3389/fendo.2023.1236878. PMID: 37937054Free PMC Article
Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.
Wang YB, Wang O, Nie M, Jiang Y, Li M, Xia WB, Xing XP
Orphanet J Rare Dis 2021 Jul 3;16(1):296. doi: 10.1186/s13023-021-01933-y. PMID: 34217342Free 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
Type I Diabetes is the Main Cost Driver in Autoimmune Polyendocrinopathy.
Radermacher LK, Ponto K, Merkesdal S, Pomart V, Frommer L, Pfeiffer N, König J, Kahaly GJ
J Clin Endocrinol Metab 2020 Apr 1;105(4) doi: 10.1210/clinem/dgz021. PMID: 31529067
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

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: 33200250
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
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

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