ArticleImmunogenetics2017
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1.
Article in Immunogenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature.Journal of human immunity · 2026Article
- The Function of Ubiquitination in T-Cell Development.Advances in experimental medicine and biology · 2024Review
- Chinese Chronic Mucocutaneous Candidiasis: A Case Report Series.Infection and drug resistance · 2024Article
- Mechanism study of ubiquitination in T cell development and autoimmune disease.Frontiers in immunology · 2024Review
- A novel AIRE mutation leads to autoimmune polyendocrine syndrome type-1.Frontiers in cell and developmental biology · 2022Article
- Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.Orphanet journal of rare diseases · 2021Observational
- Article
- A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.Molecular medicine reports · 2020Article
- Article
- A novel compound heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrine syndrome type 1.Annals of pediatric endocrinology & metabolism · 2019Article
- Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.Frontiers in immunology · 2018Review
- Interferon-omega: Current status in clinical applications.International immunopharmacology · 2017Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Autoimmune polyendocrine syndrome type 1 (APS-1, OMIM 2403000) is a rare autosomal recessive disease that is caused by autoimmune regulator (AIRE). The main symptoms of APS-1 are chronic mucocutaneous candidiasis, autoimmune adrenocortical insufficiency (Addison's disease) and hypoparathyroidism. We collected APS-1 cases and analysed them. The AIRE genes of the patient and his family members were sequenced to identify whether the APS-1 patient had an AIRE mutation. We discovered a mutation site (c.206A>C) that had never before been reported in the AIRE gene located in exon 2 of the AIRE gene. This homogyzous mutation caused a substitution of the 69th amino acid of the AIRE protein from glutamine to proline (p.Q69P). A yeast two-hybrid assay, which was used to analyse the homodimerization properties of the mutant AIRE protein, showed that the mutant AIRE protein could not interact with the normal AIRE protein. Flow cytometry and RT-qPCR analyses indicated that the new mutation site could decrease the expression levels of the AIRE, glutamic acid decarboxylase 65 (GAD65) and tryptophan hydroxylase-1 (TPH1) proteins to affect central immune tolerance. In conclusion, our research has shown that the new mutation site (c.206A>C) may influence the homodimerization and expression levels and other aspects of the AIRE protein. It may also impact the expression levels of tissue-restricted antigens (TRAs), leading to a series of autoimmune diseases.
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