Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
K Kisand, P Peterson - Journal of clinical immunology, 2015 - Springer
Journal of clinical immunology, 2015•Springer
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.
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.
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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