2023
DOI: 10.1530/edm-22-0352
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Gastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patient: major effect on treatment and prognosis

Abstract: Summary Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive inherited syndrome caused by mutations in autoimmune regulator (AIRE) gene. The three clinical components of this syndrome are mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. In addition to these frequent symptoms, many other components have been reported including gastrointestinal manifestations.We report a case of a 17-year-old Caucasian female patient diagnosed with… Show more

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“…The syndrome is characterized by three main clinical components: mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Beyond these common symptoms, various other manifestations, including gastrointestinal symptoms, have been documented [ 10 ].…”
Section: Discussionmentioning
confidence: 99%
“…The syndrome is characterized by three main clinical components: mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Beyond these common symptoms, various other manifestations, including gastrointestinal symptoms, have been documented [ 10 ].…”
Section: Discussionmentioning
confidence: 99%