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

DC Field Value Language
dc.contributor.author권아름-
dc.contributor.author김호성-
dc.contributor.author서정환-
dc.contributor.author채현욱-
dc.contributor.author이진성-
dc.contributor.author최한샘-
dc.date.accessioned2020-02-11T06:47:01Z-
dc.date.available2020-02-11T06:47:01Z-
dc.date.issued2019-
dc.identifier.issn1226-2242-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/174843-
dc.description.abstractAutoimmune 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).-
dc.description.statementOfResponsibilityopen-
dc.formatapplication/pdf-
dc.languageKorean-
dc.publisher대한소아내분비학회-
dc.relation.isPartOfJournal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지)-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleA novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아청소년과학교실)-
dc.contributor.googleauthorJunghwan Suh-
dc.contributor.googleauthorHan Saem Choi-
dc.contributor.googleauthorAhreum Kwon-
dc.contributor.googleauthorHyun Wook Chae-
dc.contributor.googleauthorJin-Sung Lee-
dc.contributor.googleauthorHo-Seong Kim-
dc.identifier.doi10.6065/apem.2019.24.4.248-
dc.contributor.localIdA00228-
dc.contributor.localIdA01184-
dc.contributor.localIdA05629-
dc.contributor.localIdA02334-
dc.contributor.localIdA04026-
dc.relation.journalcodeJ01548-
dc.identifier.pmid31905445-
dc.subject.keywordAdrenal insufficiency-
dc.subject.keywordAutoimmune diseases-
dc.subject.keywordAutoimmune polyendocrine syndrome type 1-
dc.contributor.alternativeNameKwon, Ah Reum-
dc.contributor.affiliatedAuthor권아름-
dc.contributor.affiliatedAuthor김호성-
dc.contributor.affiliatedAuthor서정환-
dc.contributor.affiliatedAuthor채현욱-
dc.citation.volume24-
dc.citation.number4-
dc.citation.startPage248-
dc.citation.endPage252-
dc.identifier.bibliographicCitationJournal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지), Vol.24(4) : 248-252, 2019-
dc.identifier.rimsid63460-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Research Institute (부설연구소) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

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