154 STEROID CELL AND ADRENAL ANTIBODIES IN AUTOIMMUNE POLYENDOCRINOPATHY - CANDIDOSIS - ECTODERMAL DYSTROPHY (APECED)
نویسندگان
چکیده
منابع مشابه
Pituitary 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...
متن کاملPathogenic and Protective Autoantibodies in Autoimmune Polyendocrinopathy-Candidiasis- Ectodermal Dystrophy (APECED)
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...
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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....
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Type 1 autoimmune polyglandular syndrome (APS1) is a rare autosomal recessive disease, caused by mutations in the autoimmune regulator gene (AIRE); the encoded Aire protein plays an important role in the establishment of the immunological tolerance acting as a transcriptional regulator of the expression of organ-specific antigens within the thymus in perinatal age. While a high prevalence for t...
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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...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1985
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198506000-00174