ReviewImmunologic research2021
Late-onset autoimmune polyendocrine syndrome type 1: a case report and literature review.
Review in Immunologic research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Multiplex Autoantibody Detection in Patients with Autoimmune Polyglandular Syndromes.International journal of molecular sciences · 2021Trial
- Autoimmune polyglandular syndrome type 1 with compound heterozygousFrontiers in immunology · 2026Review
- Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy.Clinical case reports · 2024Article
- Novel homozygous mutations inHeliyon · 2024Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.