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Novel Insights into the Autoimmunity from the Genetic Approach of the Human Disease.

Advances in experimental medicine and biology - 1 Jan 2024

Peterson Pärt

Abstract excerpt

Autoimmune-polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic inborn error of autoimmunity that is caused by damaging germline variants in the AIRE gene and clinically manifests with multiple autoimmune diseases in patients. Studies on the function of the AIRE gene, discovered in 1997, have contributed to fundamental aspects of human immunology as they have been important in understanding...

Topics

Humans
Autoimmunity
Polyendocrinopathies, Autoimmune
Transcription Factors
AIRE Protein
Autoimmune Diseases
Mutation

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 38467969
DOI: 10.1007/978-981-99-9781-7_1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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