Cited 2 times in
A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1
DC Field | Value | Language |
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dc.contributor.author | 권아름 | - |
dc.contributor.author | 김호성 | - |
dc.contributor.author | 서정환 | - |
dc.contributor.author | 채현욱 | - |
dc.contributor.author | 이진성 | - |
dc.contributor.author | 최한샘 | - |
dc.date.accessioned | 2020-02-11T06:47:01Z | - |
dc.date.available | 2020-02-11T06:47:01Z | - |
dc.date.issued | 2019 | - |
dc.identifier.issn | 1226-2242 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/174843 | - |
dc.description.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). | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | Korean | - |
dc.publisher | 대한소아내분비학회 | - |
dc.relation.isPartOf | Journal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1 | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아청소년과학교실) | - |
dc.contributor.googleauthor | Junghwan Suh | - |
dc.contributor.googleauthor | Han Saem Choi | - |
dc.contributor.googleauthor | Ahreum Kwon | - |
dc.contributor.googleauthor | Hyun Wook Chae | - |
dc.contributor.googleauthor | Jin-Sung Lee | - |
dc.contributor.googleauthor | Ho-Seong Kim | - |
dc.identifier.doi | 10.6065/apem.2019.24.4.248 | - |
dc.contributor.localId | A00228 | - |
dc.contributor.localId | A01184 | - |
dc.contributor.localId | A05629 | - |
dc.contributor.localId | A02334 | - |
dc.contributor.localId | A04026 | - |
dc.relation.journalcode | J01548 | - |
dc.identifier.pmid | 31905445 | - |
dc.subject.keyword | Adrenal insufficiency | - |
dc.subject.keyword | Autoimmune diseases | - |
dc.subject.keyword | Autoimmune polyendocrine syndrome type 1 | - |
dc.contributor.alternativeName | Kwon, Ah Reum | - |
dc.contributor.affiliatedAuthor | 권아름 | - |
dc.contributor.affiliatedAuthor | 김호성 | - |
dc.contributor.affiliatedAuthor | 서정환 | - |
dc.contributor.affiliatedAuthor | 채현욱 | - |
dc.citation.volume | 24 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 248 | - |
dc.citation.endPage | 252 | - |
dc.identifier.bibliographicCitation | Journal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지), Vol.24(4) : 248-252, 2019 | - |
dc.identifier.rimsid | 63460 | - |
dc.type.rims | ART | - |
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