Polyglandular syndrome type 3, also referred to as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), is a rare autosomal recessive disorder caused by mutations of the autoimmune regulator (AIRE) gene. It is characterized by an increased susceptibility to autoimmune disorders involving multiple endocrine organs, as well as cutaneous and mucosal candidiasis.
Common clinical features of APECED include hypoparathyroidism, Addison’s disease, type 1 diabetes mellitus, and primary hypogonadism. The presence of two or more of these conditions is essential for a diagnosis of APECED. Additionally, affected individuals may also experience recurrent candidiasis, adrenal insufficiency, autoimmune thyroiditis, and ectodermal dysplasia.
The exact cause of APECED is unknown, but is thought to be due to a mutation in the AIRE gene. This gene is involved in the regulation of the immune system, and its mutation is thought to lead to an increased susceptibility to autoimmune disorders.
The diagnosis of APECED is confirmed based on the presence of two or more of the above-mentioned autoimmune disorders, as well as the presence of the AIRE gene mutation. Treatment of APECED mainly involves controlling the symptoms associated with the individual autoimmune disorders, as well as treating any infections that may arise.
In summary, Polyglandular Syndrome Type 3, also known as APECED, is a rare autosomal recessive disorder characterized by an increased susceptibility to autoimmune disorders involving multiple endocrine organs, as well as cutaneous and mucosal candidiasis. The diagnosis is confirmed based on the presence of two or more of the above-mentioned autoimmune disorders, as well as the presence of the AIRE gene mutation. Treatment of APECED mainly involves controlling the symptoms associated with the individual autoimmune disorders, as well as treating any infections that may arise.