Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis

Novel homozygous mutations in AIRE leading to APS-1 and potential mechanisms based on bioinformatics analysis

Background: Autoimmune Poly-endocrine Syndrome Type 1 (APS-1), also known as autoimmune poly-endocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a single-gene hereditary disorder usually characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenocortical in...

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Bibliographic Details
Main Authors: Huiping Wu, Yiqi Mo, Shiwen Yu, Xiaojun Ye, Yili Lu, Chaoban Wang, Xiaoou Shan
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
Autoimmune poly-endocrine syndrome type 1
AIRE gene
Antigen presentation
Prophylactic use of antimicrobial agents
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024040684

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http://www.sciencedirect.com/science/article/pii/S2405844024040684

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