{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:26Z","timestamp":1784557046127,"version":"3.55.0"},"reference-count":13,"publisher":"Bioscientifica","issue":"2","license":[{"start":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T00:00:00Z","timestamp":1680307200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,4,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>\n                      Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive inherited syndrome caused by mutations in autoimmune regulator (\n                      <jats:italic>AIRE<\/jats:italic>\n                      ) 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 APECED who presented with acute abdominal pain. Her medical history revealed chronic digestive discomfort without bowel movement disorders. The patient needed a significant increase in doses of calcium supplementation and hydrocortisone which appeared to be partially inefficient. Investigation with esophagogastroduodenoscopy and biopsy showed autoimmune atrophic gastritis. The patient eventually needed increasing doses of treatment received in order to achieve desired clinical and biological therapeutic goals.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>\n                          Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive inherited syndrome caused by mutations in the autoimmune regulator (\n                          <jats:italic>AIRE<\/jats:italic>\n                          ) gene.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>The three clinical components of this syndrome that appear in early childhood are mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>In addition to these frequent symptoms, many other components have been reported including gastrointestinal manifestations like atrophic gastritis. They can be caused by many abnormalities including atrophic gastritis and the modification of intestinal biofilm and microbiota.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Early diagnosis and treatment of gastrointestinal manifestations associated with APECED prevent multiple life-threatening consequences like acute adrenal crisis and severe symptomatic hypocalcemia.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-22-0352","type":"journal-article","created":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T08:37:45Z","timestamp":1681720665000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":3,"title":["Gastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patient: major effect on treatment and prognosis"],"prefix":"10.1530","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8387-8278","authenticated-orcid":true,"given":"Taieb","family":"Ach","sequence":"first","affiliation":[{"name":"Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia"},{"name":"University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben Yamna","family":"Hadami","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia"},{"name":"University of Tunis, Faculty of Medicine of Tunis, Tunis, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Ghariani","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia"},{"name":"University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia"},{"name":"Department of Dermatology, University Hospital of Farhat Hached Sousse, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randa","family":"Said ElMabrouk","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia"},{"name":"University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia"},{"name":"Department of Dermatology, University Hospital of Farhat Hached Sousse, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Ben Abdelkrim","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia"},{"name":"University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Kacem","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia"},{"name":"University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Denguezli","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia"},{"name":"University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia"},{"name":"Department of Dermatology, University Hospital of Farhat Hached Sousse, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koussay","family":"Ach","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, University Hospital of Farhat Hached Sousse, Tunisia"},{"name":"University of Sousse, Faculty of Medicine of Sousse, Sousse, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Journal of the Endocrine Society","article-title":"Hypoadrenalism as the single presentation of autoimmune polyglandular syndrome Type 1","volume":"5","author":"Nasser","year":"2021","unstructured":"Nasser NHSamra NG & Naccache DD. 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