The genetic background of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy and its autoimmune disease components (original) (raw)
Abstract
Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) is a rare autosomal recessive disorder characterized by an immune-mediated destruction of endocrine tissues, chronic candidiasis, and additional ectodermal disorders. In contrast to many other autoimmune diseases, APECED is associated with mutations of a single gene, designated autoimmune regulator (AIRE). To date, 45 different mutations of the AIRE gene have been identified and are distributed throughout the entire coding region. Several of the AIRE mutations predict the transcription and translation of a truncated protein, which may be nonfunctional. In contrast to the genetic background of APECED, in all of the autoimmune conditions typically associated with APECED the conclusive role of a single genetic locus capable of providing insight into the etiology of the disease has not been identified. Here we provide an overview of the current clinical and genetic features of APECED in comparison to the genetic background of the frequently associated disease components of APECED.
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Authors and Affiliations
- Department of Gastroenterology, Hepatology, and Endocrinology, Medical School of Hanover Carl-Neubergstrasse 1, 30625 Hanover, Germany
Arndt Vogel, Christian P. Strassburg, Petra Obermayer-Straub, Georg Brabant & Michael P. Manns
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- Arndt Vogel
You can also search for this author inPubMed Google Scholar - Christian P. Strassburg
You can also search for this author inPubMed Google Scholar - Petra Obermayer-Straub
You can also search for this author inPubMed Google Scholar - Georg Brabant
You can also search for this author inPubMed Google Scholar - Michael P. Manns
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Vogel, A., Strassburg, C.P., Obermayer-Straub, P. et al. The genetic background of autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy and its autoimmune disease components.J Mol Med 80, 201–211 (2002). https://doi.org/10.1007/s00109-001-0306-2
- Received: 20 August 2001
- Accepted: 18 September 2001
- Published: 05 February 2002
- Issue Date: April 2002
- DOI: https://doi.org/10.1007/s00109-001-0306-2