Abstract
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare disorder caused by mutations in the autoimmune regulator (AIRE) gene, leading to defects in T cell selection. The disease manifestations include both autoimmune tissue destruction and immunodeficiency, with specific susceptibility to chronic mucocutaneous candidiasis. Studies have demonstrated a wide repertoire of high affinity tissue- and cytokine-specific antibodies in patients with APECED. Here, we review the antigenic targets and function of these disease-causing and disease-ameliorating antibodies.
Highlights
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; referred to as autoimmune polyendocrine syndrome type 1 (APS1)) is a rare disorder caused by autosomal recessive mutations in the autoimmune regulator (AIRE) gene; a less severe disease phenotype has been associated with dominant negative mutations in the same gene [1,2,3]
AIRE mutations primarily lead to defects in T cell tolerance, the subsequent autoantibody production drives many of the disease manifestations in patients with APECED
We have reviewed the current state of knowledge regarding pathogenic autoantibodies in patients with APECED, including antibodies directed against tissue antigens as well as cytokines
Summary
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; referred to as autoimmune polyendocrine syndrome type 1 (APS1)) is a rare disorder caused by autosomal recessive mutations in the autoimmune regulator (AIRE) gene; a less severe disease phenotype has been associated with dominant negative mutations in the same gene [1,2,3]. AIRE mutations primarily lead to defects in T cell tolerance, the subsequent autoantibody production drives many of the disease manifestations in patients with APECED. APECED is defined by the presence of two of the three major disease components of chronic mucocutaneous candidiasis (CMC), primary adrenal insufficiency, and hypoparathyroidism. Both CMC and the endocrinologic manifestations of APECED are associated with specific autoantibodies. The clinical presentation can be highly variable even amongst siblings with identical AIRE genotypes, suggesting the contribution of other modifier genes and environmental factors [11].
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