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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.
 
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

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
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
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

Fichna M, Żurawek M, Słomiński B, Sumińska M, Czarnywojtek A, Rozwadowska N, Fichna P, Myśliwiec M, Ruchała M
Endocrine 2021 Oct;74(1):72-79. Epub 2021 May 8 doi: 10.1007/s12020-021-02743-9. PMID: 33966174Free PMC Article
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
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
Van den Driessche A, Eenkhoorn V, Van Gaal L, De Block C
Neth J Med 2009 Dec;67(11):376-87. PMID: 20009114
Atassi MZ, Casali P
Autoimmunity 2008 Mar;41(2):123-32. doi: 10.1080/08916930801929021. PMID: 18324481

Diagnosis

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
Fichna M, Żurawek M, Słomiński B, Sumińska M, Czarnywojtek A, Rozwadowska N, Fichna P, Myśliwiec M, Ruchała M
Endocrine 2021 Oct;74(1):72-79. Epub 2021 May 8 doi: 10.1007/s12020-021-02743-9. PMID: 33966174Free PMC Article
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
Frommer L, Kahaly GJ
J Clin Endocrinol Metab 2019 Oct 1;104(10):4769-4782. doi: 10.1210/jc.2019-00602. PMID: 31127843
Van den Driessche A, Eenkhoorn V, Van Gaal L, De Block C
Neth J Med 2009 Dec;67(11):376-87. PMID: 20009114

Therapy

Li CW, Osman R, Menconi F, Faustino LC, Kim K, Clarke OB, Hou H, Tomer Y
Front Immunol 2021;12:796552. Epub 2021 Dec 20 doi: 10.3389/fimmu.2021.796552. PMID: 34987519Free PMC Article
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
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
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
Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
J Allergy Clin Immunol 2018 Mar;141(3):1036-1049.e5. Epub 2017 Dec 11 doi: 10.1016/j.jaci.2017.10.041. PMID: 29241729Free PMC Article

Prognosis

Li CW, Osman R, Menconi F, Faustino LC, Kim K, Clarke OB, Hou H, Tomer Y
Front Immunol 2021;12:796552. Epub 2021 Dec 20 doi: 10.3389/fimmu.2021.796552. PMID: 34987519Free PMC Article
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
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
Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)
J Allergy Clin Immunol 2018 Mar;141(3):1036-1049.e5. Epub 2017 Dec 11 doi: 10.1016/j.jaci.2017.10.041. PMID: 29241729Free PMC Article
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130

Clinical prediction guides

Bouça B, Nogueira A, Caetano J, Cardoso R, Dinis I, Mirante A
J Pediatr Endocrinol Metab 2022 Apr 26;35(4):477-480. Epub 2022 Feb 16 doi: 10.1515/jpem-2022-0050. PMID: 35170268
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
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
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
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130

Recent systematic reviews

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
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
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
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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