Sign in to NCBI
Format

Send to:

Choose Destination

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

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
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity.
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
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

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
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab.
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

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: an extensive longitudinal study in Sardinian patients.
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

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
Clinical and serologic parallels to APS-I in patients with thymomas and autoantigen transcripts in their tumors.
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

Supplemental Content

Table of contents

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    You are here: NCBI
    Support Center