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

ABSTRACT:

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 insufficiency. This syndrome is very rare in China.

Methods

For our reported patient, we employed clinical and laboratory examinations along with genetic identification. For previously reported cases, we summarized findings based on meta-analysis principles. To investigate the AIRE gene's role in disease, we utilized bioinformatics analysis with existing databases and R language processing.

Results

Nucleotide sequence analysis revealed two novel homozygous missense muta

SUBMITTER: Wu H 

PROVIDER: S-EPMC10957416 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature