ReviewJournal of endocrinological investigation2002
Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity.
Review in Journal of endocrinological investigation, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 19 citations in OpenAlex.
- Anti-RANKL Inhibits Thymic Function and Causes DRONJ in Mice.International journal of dentistry · 2022Article
- Association between Inflammatory Conditions and Alzheimer's Disease Age of Onset in Down Syndrome.Journal of clinical medicine · 2021Article
- [Prevalence of polyglandular autoimmune syndrome in patients with diabetes mellitus type 1].Medizinische Klinik (Munich, Germany : 1983) · 2009Article
- [Alopecia totalis, hypotension and erectile dysfunction in a 34 year old patient. Difficult clarification of a common cause].Der Internist · 2005Article
- Fine mapping of a region on chromosome 21q21.11-q22.3 showing linkage to type 1 diabetes.Journal of medical genetics · 2005Article
- Changes in expression of IL-1 beta influenced proteins in transplanted islets during development of diabetes in diabetes-prone BB rats.Diabetologia · 2004Article
- Fatal toxic epidermal necrolysis in autoimmune polyglandular syndrome type I.Journal of endocrinological investigation · 2004Article
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Authors and funding
2 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare, but well-defined monogenic disorder that is caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21q22.3. Patients most often suffer from loss of endocrine function in the parathyroid and adrenal glands but may also develop Type 1 diabetes, thyroid disease or hypogonadism. The disease may therefore serve as a model for sporadic endocrine autoimmunity and help to develop new screening and prevention methods. To date at least 46 mutations of AIRE have been identified in affected individuals. Little is known about heterozygosity states but patients with the more prevalent isolated autoimmune endocrinopathies such as Type 1 diabetes, Hashimoto's thyroiditis, Graves' or Addison's disease do not have any of the common mutations. This does not rule out AIRE to be affected either by so far unknown or regulatory variants. The recent characterization of AIRE knockout mice with similar immune pathological findings compared to the human setting will help to elucidate endocrine autoimmunity.
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