ArticleAmerican journal of human genetics1996
Genetic homogeneity of autoimmune polyglandular disease type I.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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.
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Who cites it
25 citing papers in PubMed, 117 citations in OpenAlex.
- Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.The Journal of clinical endocrinology and metabolism · 2026Article
- Autoimmune hyperglycemia: beyond type 1 diabetes.Acta diabetologica · 2025Article
- Lessons From Prospective Longitudinal Follow-up of a French APECED Cohort.The Journal of clinical endocrinology and metabolism · 2025Observational
- Novel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.Advances in experimental medicine and biology · 2024Article
- Anti-CD45RC antibody immunotherapy prevents and treats experimental autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.The Journal of clinical investigation · 2022Article
- Multiple Lesions Contribute to Infertility in Males Lacking Autoimmune Regulator.The American journal of pathology · 2021Article
- Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence.Frontiers in immunology · 2021Review
- Genetic Disorders of Parathyroid Development and Function.Endocrinology and metabolism clinics of North America · 2018Review
- Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.Frontiers in immunology · 2018Review
- [Clinical analysis and autoimmune regulator gene mutation of autoimmune polyendocrinopathy syndrome type I in a family: a report of one case].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Mendelian genetics of human susceptibility to fungal infection.Cold Spring Harbor perspectives in medicine · 2014Review
- New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.PloS one · 2014Article
- A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.PloS one · 2013Article
- APECED: is this a model for failure of T cell and B cell tolerance?Frontiers in immunology · 2012Article
- The role of AIRE in human autoimmune disease.Nature reviews. Endocrinology · 2011Review
- Asplenia and functional hyposplenism in autoimmune polyglandular syndrome type 1.European journal of pediatrics · 2009Article
- Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers.European journal of pediatrics · 2008Article
- Genetic analysis of innate immunity in resistance to Candida albicans.Genes and immunity · 2004Review
- Changes in expression of IL-1 beta influenced proteins in transplanted islets during development of diabetes in diabetes-prone BB rats.Diabetologia · 2004Article
- Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity.Clinical and experimental immunology · 2004Review
Corrections and comments
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Authors and funding
19 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease (MIM 240300) characterized by hypoparathyroidism, primary adrenocortical failure, and chronic mucocutaneous candidiasis. The disease is highly prevalent in two isolated populations, the Finnish population and the Iranian Jewish one. Sporadic cases have been identified in many other countries, including almost all European countries. The APECED locus has previously been assigned to chromosome 21q22.3 by linkage analyses in 14 Finnish families. Locus heterogeneity is a highly relevant question in this disease affecting multiple tissues and with great phenotypic diversity. To solve this matter, we performed linkage and haplotype analyses on APECED families rising from different populations. Six microsatellite markers on the critical chromosomal region of 2.6 cM on 21q22.3 were analyzed. Pairwise linkage analyses revealed significant LOD scores for all these markers, maximum LOD score being 10.23. The obtained haplotype data and the geographic distribution of the great-grandparents of the Finnish APECED patients suggest the presence of one major, relatively old mutation responsible for approximately 90% of the Finnish cases. Similar evidence for one founder mutation was also found in analyses of Iranian Jewish APECED haplotypes. These haplotypes, however, differed totally from the Finnish ones. The linkage analyses in 21 non-Finnish APECED families originating from several European countries provided independent evidence for linkage to the same chromosomal region on 21q22.3 and revealed no evidence for locus heterogeneity. The haplotype analyses of APECED chromosomes suggest that in different populations APECED is due to a spectrum of mutations in a still unknown gene on chromosome 21.
Indexed as
Identifiers
8808604PMC1914815W1600116166What OpenQuestion holds
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.