Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation
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منابع مشابه
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disease, caused by mutations of a single gene named autoimmune regulator gene (AIRE) which results in a failure of T cell tolerance within the thymus. Chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease are the hallmarks of the syndrome. APECED is also character...
متن کاملPituitary autoantibodies in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease due to mutations in the AIRE (AutoImmune REgulator) gene. The role of pituitary autoimmunity in APECED is not known. We determined the prevalence of pituitary autoantibodies in a cohort of 67 Finnish patients with APECED from 217 serum samples collected over 26 years by one investigator. Ov...
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Hypoparathyroidism is a heterogeneous clinical condition (Table I) (1). It manifests when parathyroid hormone (PTH) produced by parathyroid glands is unable to maintain normal extracellular fluid concentrations of calcium ions, for insufficient secretion or inadequate action on target tissues despite normal or high circulating levels of the hormone (pseudo-hypoparathy r o i d i s m) (1, 2). 1,2...
متن کاملAutoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome ( APECED ) : report on three cases from Southern Italy Brief report
Autoimune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED; OMIM 240300), or Autoimmune Polyglandular Syndrome Type 1 (APS I) is a rare autosomal recessive disorder with high penetrance, characterized by a variable combination of destructive autoimmune phenomena (1, 2) and caused by a number of different mutations in the autoimmune regulator (AIRE) gene, which maps to 21q22....
متن کاملAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of three cases from Iran.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also named as autoimmune polyglandular syndrome (APS) type 1, is a rare autosomal recessive disorder caused by mutations in autoimmune regulator (AIRE) gene. It is distinguished by an immune-mediated damage of endocrine tissues, chronic candidiasis, and ectodermal disorder. APECED has been shown to be frequent in some popu...
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ژورنال
عنوان ژورنال: International Journal of Endocrinology
سال: 2012
ISSN: 1687-8337,1687-8345
DOI: 10.1155/2012/353250