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A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1

Authors
 Junghwan Suh  ;  Han Saem Choi  ;  Ahreum Kwon  ;  Hyun Wook Chae  ;  Jin-Sung Lee  ;  Ho-Seong Kim 
Citation
 Journal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지), Vol.24(4) : 248-252, 2019 
Journal Title
 Journal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지) 
ISSN
 1226-2242 
Issue Date
2019
Keywords
Adrenal insufficiency ; Autoimmune diseases ; Autoimmune polyendocrine syndrome type 1
Abstract
Autoimmune polyendocrine syndrome type 1 (APS-1), or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare, autosomal recessive autoimmune disease caused by a mutation of the autoimmune regulator (AIRE) gene. The main symptom triad in APS-1 comprises chronic mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism. Various autoimmune diseases and ectodermal abnormalities are also commonly associated with the syndrome. The treatment of APS-1 includes hormone replacement and symptom control. It is important to monitor such patients for clinical manifestations of their disease through regular follow-up. We report the case of a 10-year-old Korean girl with APS-1 due to a novel compound heterozygous mutation of the AIRE gene. This patient's main clinical manifestations were adrenal insufficiency and chronic mucocutaneous candidiasis. The patient had a previously known pathogenic variant of c.1513delG (p.Ala505ProfsTer16), and a newly discovered variant of c.1360dupC (p.His454ProfsTer50).
Files in This Item:
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DOI
10.6065/apem.2019.24.4.248
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
5. Research Institutes (연구소) > Epilepsy Research Institute (뇌전증연구소) > 1. Journal Papers
Yonsei Authors
Kwon, Ah Reum(권아름) ORCID logo https://orcid.org/0000-0002-9692-2135
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Suh, Junghwan(서정환) ORCID logo https://orcid.org/0000-0002-2092-2585
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Chae, Hyun Wook(채현욱) ORCID logo https://orcid.org/0000-0001-5016-8539
Choi, Han Saem(최한샘) ORCID logo https://orcid.org/0000-0003-4140-0345
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/174843
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