Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

摘要: Abstract Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that characterized by variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) the dental enamel nails. We analyzed AIRE (autoimmune regulator) gene in subjects who presented any symptom has been associated with APECED, including candidiasis endocrinopathy. observed 83.3% patients at least two three typical manifestations while remaining 16.7% showed other signs disease. Analysis genetic diagnosis these revealed considerable delay occurs majority between appearance symptoms diagnosis. Overall, mean diagnostic our was 10.2 years. These results suggest molecular analysis should be performed relapsing for early identification APECED.