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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
1Institute of Biomedicine and Translational Medicine, University of Tartu, 19 Ravila Str., Tartu, EE50411, Estonia, kai.kisand@ut.ee.
Abstract:
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene. This review focuses on the clinical and immunological features of APECED, summarizes the current knowledge on the function of AIRE and discusses the importance of autoantibodies in disease diagnosis and prognosis. Additionally, we review the outcome of recent immunomodulatory treatments in APECED patients.
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