A novel case of chronic mucocutaneous candidiasis: Overlap between autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy syndrome and hyper IgE syndrome
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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...
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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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Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare disorder of immune dysregulation caused by mutations in the autoimmune regulator (AIRE) gene. Individuals affected with APECED develop a clinical syndrome characterized by ectodermal abnormalities, autoantibody production, and organ-specific autoimmune manifestations. Inflammatory arthritis is usually not...
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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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ژورنال
عنوان ژورنال: Indian Journal of Paediatric Dermatology
سال: 2018
ISSN: 2319-7250
DOI: 10.4103/ijpd.ijpd_20_17