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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

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
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
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
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
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

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
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
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
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
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

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
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
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
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
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490

Prognosis

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
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
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
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
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

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
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
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
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
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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