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Polyglandular Deficiency Syndrome, Persian-Jewish Type

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

Recent clinical studies

Etiology

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
Bratland E, Magitta NF, Bøe Wolff AS, Ekern T, Knappskog PM, Kämpe O, Haavik J, Husebye ES
Immunobiology 2013 Jun;218(6):899-909. Epub 2012 Oct 26 doi: 10.1016/j.imbio.2012.10.006. PMID: 23182718
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

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
Popler J, Alimohammadi M, Kämpe O, Dalin F, Dishop MK, Barker JM, Moriarty-Kelsey M, Soep JB, Deterding RR
Pediatr Pulmonol 2012 Jan;47(1):84-7. Epub 2011 Sep 7 doi: 10.1002/ppul.21520. PMID: 21901851

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

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
Wolff AS, Kärner J, Owe JF, Oftedal BE, Gilhus NE, Erichsen MM, Kämpe O, Meager A, Peterson P, Kisand K, Willcox N, Husebye ES
J Immunol 2014 Oct 15;193(8):3880-90. Epub 2014 Sep 17 doi: 10.4049/jimmunol.1401068. PMID: 25230752Free PMC Article

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