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Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review
- Source :
- Immunologic Research
- Publication Year :
- 2021
- Publisher :
- Springer US, 2021.
-
Abstract
- Autoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a rare monogenic disorder, is classically characterized by a triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. The identified causative gene is autoimmune regulator (AIRE), which encodes a critical transcription factor and is essential for self-tolerance. Here, we describe a late-onset Chinese case who presented with symptoms of persistent tetany due to hypocalcemia. Extensive clinical evaluations revealed that the patient manifested beyond the classic triad of the disease, and next-generation sequencing identified a known homozygous AIRE mutation (p.R139X). APS-1 is a rare inherited immunodeficiency disease with high clinical and genetic heterogeneity. By retrospectively analyzing the disease, we comprehensively reviewed the phenotypic features, summarized the genotype spectrum, and discussed the possible immunological mechanisms of the disease to enhance earlier recognition and implement targeted preventive and therapeutic strategies.
- Subjects :
- Adult
Male
Immunology
Disease
03 medical and health sciences
0302 clinical medicine
Fatal Outcome
Asian People
AIRE
Genotype
Exome Sequencing
medicine
Humans
Chronic mucocutaneous candidiasis
Age of Onset
Polyendocrinopathies, Autoimmune
Autoantibodies
030203 arthritis & rheumatology
Genetic heterogeneity
business.industry
Autoantibody
Autoimmune regulator
medicine.disease
Autoimmune polyendocrine syndrome type 1
Hypoparathyroidism
Mutation
Original Article
business
030215 immunology
APECED
Transcription Factors
Subjects
Details
- Language :
- English
- ISSN :
- 15590755 and 0257277X
- Database :
- OpenAIRE
- Journal :
- Immunologic Research
- Accession number :
- edsair.doi.dedup.....fba39fb377ab198b847321dc1ba05c4a