A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1

A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1

Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare inherited monogenic autoimmune disease characterized by the presence of at least two of three following major clinical features: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. Mutations in autoimmune regula...

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Bibliographic Details
Main Authors: Guofeng Qian, Xiaoyi Yan, Junli Xuan, Danfeng Zheng, Zhiwen He, Jianguo Shen
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
autoimmune polyendocrine syndrome type-1 (APS-1)
autoimmune regulator (AIRE)
homozygous mutation
exon
pedigree
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2022.948350/full

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