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Autoimmune polyglandular syndrome type 1, autosomal dominant

MedGen UID:
340991
Concept ID:
C1855869
Disease or Syndrome
Synonym: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT
 
OMIM®: 240300; 607358

Recent clinical studies

Etiology

Wang Y, Nie M, Wang O, Li Y, Jiang Y, Li M, Xia W, Xing X
J Bone Miner Res 2019 Dec;34(12):2254-2263. Epub 2019 Nov 13 doi: 10.1002/jbmr.3854. PMID: 31433868
Koch D, Lilic D, Carmichael AJ
Clin Exp Dermatol 2009 Dec;34(8):e818-20. Epub 2009 Sep 19 doi: 10.1111/j.1365-2230.2009.03561.x. PMID: 19778308
Siewert E, Silvestri A, Riehl J, Mertens PR
Eur J Med Res 2001 Jan 29;6(1):21-6. PMID: 11313187

Diagnosis

Resende E, Gόmez GN, Nascimento M, Loidi L, Saborido Fiaño R, Cabanas Rodrίguez P, Castro-Feijoo L, Barreiro Conde J
Hormones (Athens) 2015 Apr-Jun;14(2):312-6. doi: 10.14310/horm.2002.1513. PMID: 25402387
Siewert E, Silvestri A, Riehl J, Mertens PR
Eur J Med Res 2001 Jan 29;6(1):21-6. PMID: 11313187

Therapy

Winer KK, Kelly A, Johns A, Zhang B, Dowdy K, Kim L, Reynolds JC, Albert PS, Cutler GB Jr
J Pediatr 2018 Dec;203:391-399.e1. doi: 10.1016/j.jpeds.2018.08.010. PMID: 30470382Free PMC Article
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490
Siewert E, Silvestri A, Riehl J, Mertens PR
Eur J Med Res 2001 Jan 29;6(1):21-6. PMID: 11313187

Prognosis

Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, Kallmann L, Sombke SA, Notheis G, Schwarz HP, Kammer B, Hökfelt T, Repp R, Picard C, Casanova JL, Belohradsky BH, Albert MH, Ochs HD, Renner ED, Torgerson TR
J Clin Immunol 2013 Aug;33(6):1088-99. Epub 2013 May 25 doi: 10.1007/s10875-013-9906-1. PMID: 23708964
Koch D, Lilic D, Carmichael AJ
Clin Exp Dermatol 2009 Dec;34(8):e818-20. Epub 2009 Sep 19 doi: 10.1111/j.1365-2230.2009.03561.x. PMID: 19778308

Clinical prediction guides

Winer KK, Kelly A, Johns A, Zhang B, Dowdy K, Kim L, Reynolds JC, Albert PS, Cutler GB Jr
J Pediatr 2018 Dec;203:391-399.e1. doi: 10.1016/j.jpeds.2018.08.010. PMID: 30470382Free PMC Article
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490
Cetani F, Barbesino G, Borsari S, Pardi E, Cianferotti L, Pinchera A, Marcocci C
J Clin Endocrinol Metab 2001 Oct;86(10):4747-52. doi: 10.1210/jcem.86.10.7884. PMID: 11600535
Siewert E, Silvestri A, Riehl J, Mertens PR
Eur J Med Res 2001 Jan 29;6(1):21-6. PMID: 11313187

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