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Polyglandular Deficiency Syndrome, Persian-Jewish Type

MedGen UID:
340990
•Concept ID:
C1855868
•
Disease or Syndrome
Synonym: POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE
 
OMIM®: 240300

Recent clinical studies

Etiology

The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers.
Weiler FG, Peterson P, Costa-Carvalho BT, de Barros Dorna M, Correia-Deur JE, Sader SL, Espíndola-Antunes D, Guerra-Junior G, Dias-da-Silva MR, Lazaretti-Castro M
Clin Immunol 2018 Dec;197:231-238. Epub 2018 Oct 1 doi: 10.1016/j.clim.2018.09.012. PMID: 30287219
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1.
Bruserud Ø, Oftedal BE, Landegren N, Erichsen MM, Bratland E, Lima K, Jørgensen AP, Myhre AG, Svartberg J, Fougner KJ, Bakke Å, Nedrebø BG, Mella B, Breivik L, Viken MK, Knappskog PM, Marthinussen MC, Løvås K, Kämpe O, Wolff AB, Husebye ES
J Clin Endocrinol Metab 2016 Aug;101(8):2975-83. Epub 2016 Jun 2 doi: 10.1210/jc.2016-1821. PMID: 27253668Free PMC Article
Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.
Bourgault S, Baril C, Vincent A, Héon E, Ali A, MacDonald I, Lueder GT, Colleaux KM, Laliberté I
Br J Ophthalmol 2015 Nov;99(11):1536-42. Epub 2015 Apr 29 doi: 10.1136/bjophthalmol-2014-305897. PMID: 25926518
Recalcitrant hypocalcaemia in autoimmune enteropathy.
Geyer M, Fairchild J, Moore D, Moore L, Henning P, Tham E
Pediatrics 2014 Dec;134(6):e1720-6. Epub 2014 Nov 17 doi: 10.1542/peds.2013-3308. PMID: 25404718
Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.
Maródi L, Cypowyj S, Tóth B, Chernyshova L, Puel A, Casanova JL
J Allergy Clin Immunol 2012 Nov;130(5):1019-27. Epub 2012 Oct 3 doi: 10.1016/j.jaci.2012.09.011. PMID: 23040277Free PMC Article

Diagnosis

A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
Zhu W, Hu Z, Liao X, Chen X, Huang W, Zhong Y, Zeng Z
Immunogenetics 2017 Oct;69(10):643-651. Epub 2017 May 24 doi: 10.1007/s00251-017-0995-5. PMID: 28540407
Expanded CD4(+) Effector/Memory T Cell Subset in APECED Produces Predominantly Interferon Gamma.
Heikkilä N, Laakso SM, Mannerström H, Kekäläinen E, Saavalainen P, Jarva H, Arstila TP
J Clin Immunol 2016 Aug;36(6):555-63. Epub 2016 Jun 4 doi: 10.1007/s10875-016-0302-5. PMID: 27262317
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1.
Bruserud Ø, Oftedal BE, Landegren N, Erichsen MM, Bratland E, Lima K, Jørgensen AP, Myhre AG, Svartberg J, Fougner KJ, Bakke Å, Nedrebø BG, Mella B, Breivik L, Viken MK, Knappskog PM, Marthinussen MC, Løvås K, Kämpe O, Wolff AB, Husebye ES
J Clin Endocrinol Metab 2016 Aug;101(8):2975-83. Epub 2016 Jun 2 doi: 10.1210/jc.2016-1821. PMID: 27253668Free PMC Article
Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.
Bourgault S, Baril C, Vincent A, Héon E, Ali A, MacDonald I, Lueder GT, Colleaux KM, Laliberté I
Br J Ophthalmol 2015 Nov;99(11):1536-42. Epub 2015 Apr 29 doi: 10.1136/bjophthalmol-2014-305897. PMID: 25926518
Psoriasis in autoimmune polyendocrine syndrome type I: a possible complication or a non-endocrine minor component?
Poojary SA, Lodha N, Gupta N
Indian J Dermatol Venereol Leprol 2015 Mar-Apr;81(2):166-9. doi: 10.4103/0378-6323.152285. PMID: 25751334

Therapy

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
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1.
Landegren N, Sharon D, Freyhult E, Hallgren Å, Eriksson D, Edqvist PH, Bensing S, Wahlberg J, Nelson LM, Gustafsson J, Husebye ES, Anderson MS, Snyder M, Kämpe O
Sci Rep 2016 Feb 1;6:20104. doi: 10.1038/srep20104. PMID: 26830021Free PMC Article
Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1.
Sinha R, Chapman AR, Reid GT, Hayes PC
J R Coll Physicians Edinb 2015;45(2):136-40. doi: 10.4997/JRCPE.2015.210. PMID: 26181530
Recalcitrant hypocalcaemia in autoimmune enteropathy.
Geyer M, Fairchild J, Moore D, Moore L, Henning P, Tham E
Pediatrics 2014 Dec;134(6):e1720-6. Epub 2014 Nov 17 doi: 10.1542/peds.2013-3308. PMID: 25404718
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

Prognosis

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1.
Bruserud Ø, Oftedal BE, Landegren N, Erichsen MM, Bratland E, Lima K, Jørgensen AP, Myhre AG, Svartberg J, Fougner KJ, Bakke Å, Nedrebø BG, Mella B, Breivik L, Viken MK, Knappskog PM, Marthinussen MC, Løvås K, Kämpe O, Wolff AB, Husebye ES
J Clin Endocrinol Metab 2016 Aug;101(8):2975-83. Epub 2016 Jun 2 doi: 10.1210/jc.2016-1821. PMID: 27253668Free PMC Article
Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.
Bourgault S, Baril C, Vincent A, Héon E, Ali A, MacDonald I, Lueder GT, Colleaux KM, Laliberté I
Br J Ophthalmol 2015 Nov;99(11):1536-42. Epub 2015 Apr 29 doi: 10.1136/bjophthalmol-2014-305897. PMID: 25926518
A normal T cell receptor beta CDR3 length distribution in patients with APECED.
Niemi HJ, Laakso S, Salminen JT, Arstila TP, Tuulasvaara A
Cell Immunol 2015 Jun;295(2):99-104. Epub 2015 Mar 23 doi: 10.1016/j.cellimm.2015.03.005. PMID: 25880100
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.
Zhang J, Liu H, Liu Z, Liao Y, Guo L, Wang H, He L, Zhang X, Xing Q
PLoS One 2013;8(1):e53981. Epub 2013 Jan 8 doi: 10.1371/journal.pone.0053981. PMID: 23342054Free PMC Article
Autoimmune polyendocrine syndrome type 1: case report and review of literature.
Weiler FG, Dias-da-Silva MR, Lazaretti-Castro M
Arq Bras Endocrinol Metabol 2012 Feb;56(1):54-66. doi: 10.1590/s0004-27302012000100009. PMID: 22460196

Clinical prediction guides

The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers.
Weiler FG, Peterson P, Costa-Carvalho BT, de Barros Dorna M, Correia-Deur JE, Sader SL, Espíndola-Antunes D, Guerra-Junior G, Dias-da-Silva MR, Lazaretti-Castro M
Clin Immunol 2018 Dec;197:231-238. Epub 2018 Oct 1 doi: 10.1016/j.clim.2018.09.012. PMID: 30287219
Expanded CD4(+) Effector/Memory T Cell Subset in APECED Produces Predominantly Interferon Gamma.
Heikkilä N, Laakso SM, Mannerström H, Kekäläinen E, Saavalainen P, Jarva H, Arstila TP
J Clin Immunol 2016 Aug;36(6):555-63. Epub 2016 Jun 4 doi: 10.1007/s10875-016-0302-5. PMID: 27262317
Fulminant hepatic failure in autoimmune polyendocrine syndrome type-1.
Sinha R, Chapman AR, Reid GT, Hayes PC
J R Coll Physicians Edinb 2015;45(2):136-40. doi: 10.4997/JRCPE.2015.210. PMID: 26181530
A normal T cell receptor beta CDR3 length distribution in patients with APECED.
Niemi HJ, Laakso S, Salminen JT, Arstila TP, Tuulasvaara A
Cell Immunol 2015 Jun;295(2):99-104. Epub 2015 Mar 23 doi: 10.1016/j.cellimm.2015.03.005. PMID: 25880100
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

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