ReviewFrontiers in immunology2013
APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors.
Review in Frontiers in immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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.
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Who cites it
17 citing papers in PubMed, 42 citations in OpenAlex.
- Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1-A Case Study and Literature Review.Journal of clinical medicine · 2024Review
- Identification of unstable regulatory and autoreactive effector T cells that are expanded in patients withScience translational medicine · 2023Article
- Differential Diagnosis: Hepatic Complications in Inborn Errors of Immunity.Journal of clinical medicine · 2023Review
- Autoimmune adrenal insufficiency in children: a hint for polyglandular syndrome type 2?Italian journal of pediatrics · 2023Article
- Fahr's syndrome as a manifestation of autoimmune polyendocrine syndrome-1 and its unusual association with neuromyelitis optica spectrum disorder.Frontiers in neuroscience · 2023Review
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.Journal of endocrinological investigation · 2021Article
- The Role of AIRE Deficiency in Infertility and Its Potential Pathogenesis.Frontiers in immunology · 2021Review
- Epidemiology, pathogenesis, and diagnosis of Addison's disease in adults.Journal of endocrinological investigation · 2019Review
- Rapid whole-genome sequencing identifies a novelCold Spring Harbor molecular case studies · 2018Review
- Unusual case of anti-N-methyl-D-aspartic acid-receptor (NMDA-R) encephalitis and autoimmune polyglandular syndrome (APS).BMJ case reports · 2018Article
- Autoimmunity and primary immunodeficiency: two sides of the same coin?Nature reviews. Rheumatology · 2017Review
- Novel Findings into AIRE Genetics and Functioning: Clinical Implications.Frontiers in pediatrics · 2016Review
- Review
- A novel mutation in autoimmune regulator gene causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Journal of endocrinological investigation · 2014Article
- Association ofAvicenna journal of medical biotechnologyArticle
- A Rare Case of Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome: Dental Perspective on Diagnosis and Management.International journal of clinical pediatric dentistryArticle
- Clinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children.Indian journal of dermatologyArticle
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease, caused by mutations of a single gene named Autoimmune regulator gene (AIRE) which results in a failure of T-cell tolerance. Central tolerance takes place within the thymus and represents the mechanism by which potentially auto-reactive T-cells are eliminated through the negative selection process. The expression of tissue-specific antigens (TSAs) by medullary thymic epithelial cells (mTECs) in the thymus is a key process in the central tolerance and is driven by the protein encoded by AIRE gene, the transcription factor autoimmune regulator (AIRE). A failure in this process caused by AIRE mutations is thought to be responsible of the systemic autoimmune reactions of APECED. APECED is characterized by several autoimmune endocrine and non-endocrine manifestations and the phenotype is often complex. Although APECED is the paradigm of a monogenic autoimmune disorder, it is characterized by a wide variability of the clinical expression even between siblings with the same genotype, thus implying that additional mechanisms, other than the failure of Aire function, are involved in the pathogenesis of the disease. Unraveling open issues of the molecular basis of APECED, will help improve diagnosis, management, and therapeutical strategies of this complex disease.
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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.