Early recognition of the APECED rash can accelerate the diagnosis of APECED

Elise M.N. Ferré , Chyi-Chia R. Lee , Michail S. Lionakis
{"title":"Early recognition of the APECED rash can accelerate the diagnosis of APECED","authors":"Elise M.N. Ferré ,&nbsp;Chyi-Chia R. Lee ,&nbsp;Michail S. Lionakis","doi":"10.1016/j.clicom.2024.03.001","DOIUrl":null,"url":null,"abstract":"<div><p>Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a monogenic autoimmune disease most often resulting from biallelic loss-of-function variants in the autoimmune regulator (<em>AIRE</em>) gene. Although typically characterized by the classic triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency, we have recently reported that the clinical spectrum of the syndrome is far broader that previously described and that incorporation of an adjunct triad of APECED rash, autoimmune enteritis-associated intestinal dysfunction, and enamel hypoplasia in the classic triad manifestations could lead to earlier diagnosis. Among the adjunct triad manifestations, APECED rash occurs in 66 % of American APECED patients by age 3, most often developing in the first year of life. Here, we describe the clinical and histological features of protracted APECED rash manifesting together with recurrent mucocutaneous candidiasis as the first two disease components of APECED in a 10-month-old girl.</p></div>","PeriodicalId":100269,"journal":{"name":"Clinical Immunology Communications","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772613424000064/pdfft?md5=0a30287078275916ae14bcd735f32528&pid=1-s2.0-S2772613424000064-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Immunology Communications","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2772613424000064","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a monogenic autoimmune disease most often resulting from biallelic loss-of-function variants in the autoimmune regulator (AIRE) gene. Although typically characterized by the classic triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency, we have recently reported that the clinical spectrum of the syndrome is far broader that previously described and that incorporation of an adjunct triad of APECED rash, autoimmune enteritis-associated intestinal dysfunction, and enamel hypoplasia in the classic triad manifestations could lead to earlier diagnosis. Among the adjunct triad manifestations, APECED rash occurs in 66 % of American APECED patients by age 3, most often developing in the first year of life. Here, we describe the clinical and histological features of protracted APECED rash manifesting together with recurrent mucocutaneous candidiasis as the first two disease components of APECED in a 10-month-old girl.

早期识别 APECED 皮疹可加速 APECED 的诊断
自身免疫性多内分泌病-念珠菌病-外胚层营养不良症(APECED)是一种单基因自身免疫性疾病,通常由自身免疫调节剂(AIRE)基因的双倍功能缺失变异引起。尽管该病的典型特征是慢性皮肤粘膜念珠菌病、甲状旁腺功能减退症和肾上腺功能不全的典型三联征,但我们最近报告称,该综合征的临床范围远比以前描述的要广,将 APECED 皮疹、自身免疫性肠炎相关肠道功能障碍和牙釉质发育不全的辅助三联征纳入典型三联征表现可导致更早的诊断。在三联征的辅助表现中,66%的美国 APECED 患者在 3 岁前会出现 APECED 皮疹,多在出生后第一年发病。在这里,我们描述了一名 10 个月大的女孩的临床和组织学特征,她的长期 APECED 皮疹与复发性皮肤粘膜念珠菌病同时表现为 APECED 的前两种疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信