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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

Hetemäki I, Laakso S, Välimaa H, Kleino I, Kekäläinen E, Mäkitie O, Arstila TP
Clin Immunol 2021 Oct;231:108851. Epub 2021 Sep 8 doi: 10.1016/j.clim.2021.108851. PMID: 34508889Free PMC Article
Bastard P, Orlova E, Sozaeva L, Lévy R, James A, Schmitt MM, Ochoa S, Kareva M, Rodina Y, Gervais A, Le Voyer T, Rosain J, Philippot Q, Neehus AL, Shaw E, Migaud M, Bizien L, Ekwall O, Berg S, Beccuti G, Ghizzoni L, Thiriez G, Pavot A, Goujard C, Frémond ML, Carter E, Rothenbuhler A, Linglart A, Mignot B, Comte A, Cheikh N, Hermine O, Breivik L, Husebye ES, Humbert S, Rohrlich P, Coaquette A, Vuoto F, Faure K, Mahlaoui N, Kotnik P, Battelino T, Trebušak Podkrajšek K, Kisand K, Ferré EMN, DiMaggio T, Rosen LB, Burbelo PD, McIntyre M, Kann NY, Shcherbina A, Pavlova M, Kolodkina A, Holland SM, Zhang SY, Crow YJ, Notarangelo LD, Su HC, Abel L, Anderson MS, Jouanguy E, Neven B, Puel A, Casanova JL, Lionakis MS
J Exp Med 2021 Jul 5;218(7) doi: 10.1084/jem.20210554. PMID: 33890986Free PMC Article
Vazquez SE, Ferré EM, Scheel DW, Sunshine S, Miao B, Mandel-Brehm C, Quandt Z, Chan AY, Cheng M, German M, Lionakis M, DeRisi JL, Anderson MS
Elife 2020 May 15;9 doi: 10.7554/eLife.55053. PMID: 32410729Free PMC Article
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

Diagnosis

Domingues-Ferreira M, Vasconcelos DM, Bezerra TA, Bertolini DL, Barros NC, Auler ME
J Mycol Med 2022 Aug;32(3):101293. Epub 2022 May 10 doi: 10.1016/j.mycmed.2022.101293. PMID: 35597148
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
Philippot Q, Casanova JL, Puel A
Curr Opin Immunol 2021 Oct;72:318-323. Epub 2021 Aug 26 doi: 10.1016/j.coi.2021.08.001. PMID: 34455138Free PMC Article
Zheng WB, Li LJ, Zhao DC, Wang O, Jiang Y, Xia WB, Li M
Mol Med Rep 2020 Aug;22(2):1285-1294. Epub 2020 Jun 12 doi: 10.3892/mmr.2020.11227. PMID: 32627016Free PMC Article
Vazquez SE, Ferré EM, Scheel DW, Sunshine S, Miao B, Mandel-Brehm C, Quandt Z, Chan AY, Cheng M, German M, Lionakis M, DeRisi JL, Anderson MS
Elife 2020 May 15;9 doi: 10.7554/eLife.55053. PMID: 32410729Free PMC Article

Therapy

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
Zheng WB, Li LJ, Zhao DC, Wang O, Jiang Y, Xia WB, Li M
Mol Med Rep 2020 Aug;22(2):1285-1294. Epub 2020 Jun 12 doi: 10.3892/mmr.2020.11227. PMID: 32627016Free PMC Article
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

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
Meloni A, Willcox N, Meager A, Atzeni M, Wolff AS, Husebye ES, Furcas M, Rosatelli MC, Cao A, Congia M
J Clin Endocrinol Metab 2012 Apr;97(4):1114-24. Epub 2012 Feb 16 doi: 10.1210/jc.2011-2461. PMID: 22344197

Clinical prediction guides

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
Zheng WB, Li LJ, Zhao DC, Wang O, Jiang Y, Xia WB, Li M
Mol Med Rep 2020 Aug;22(2):1285-1294. Epub 2020 Jun 12 doi: 10.3892/mmr.2020.11227. PMID: 32627016Free PMC Article
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

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