{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T19:21:48Z","timestamp":1793906508220,"version":"4.8.0"},"reference-count":38,"publisher":"Walter de Gruyter GmbH","issue":"4","license":[{"start":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T00:00:00Z","timestamp":1771545600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0522_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a multi-system autoimmune disorder caused by\n                      <jats:italic>AIRE<\/jats:italic>\n                      gene variants. Diagnosis can be challenging and often delayed. A specialised clinic for children and young people with APECED established in 2024 at Bristol Royal Hospital for Children, recruited patients from South-West England. We describe the diagnostic journey, disease progression and management challenges for 4 patients with APECED.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0522_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>All cases had a history of fungal nail infections and chronic mucocutaneous candidiasis preceding the development of endocrinopathy. Hypoparathyroidism was the most common endocrine presentation (n=3). Two patients had pancreatic exocrine dysfunction requiring pancreatic enzyme replacement. One patient had primary ovarian insufficiency (POI) aged 11. One female without evidence of POI was referred to fertility services to discuss fertility preservation. Immunomodulation was used in 2 patients; 1 received sirolimus, rituximab, corticosteroids, mycophenolate followed by ruxolitinib and 1 patient recently started ruxolitinib.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0522_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Inter-speciality working is important to detect and manage a range of comorbidities as new immunomodulatory therapies that aim to prevent disease progression are emerging. Proactive screening for certain autoantibodies such as 21-OH can help predict patients at risk of certain endocrinopathies and may provide an opportunity for early intervention to prevent long-term morbidity.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0522","type":"journal-article","created":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T16:58:16Z","timestamp":1771520296000},"page":"396-405","source":"Crossref","is-referenced-by-count":1,"title":["Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a case series and experience from a UK tertiary paediatric hospital"],"prefix":"10.1515","volume":"39","author":[{"given":"Alaa","family":"Baioumi","sequence":"first","affiliation":[{"name":"Department of Paediatric Diabetes and Endocrinology , University Hospitals Bristol NHS Foundation Trust, Bristol Royal Hospital for Children , Bristol , UK"},{"name":"Department of Paediatrics , Ain Shams University , Cairo , Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karthik","family":"Darma","sequence":"additional","affiliation":[{"name":"Department of Paediatric Infectious Diseases and Immunology , University Hospitals Bristol NHS Foundation Trust, Bristol Royal Hospital for Children , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lakshmi","family":"Selvarajan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology , University Hospitals Bristol NHS Foundation Trust, Bristol Royal Hospital for Children , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Hamblin","sequence":"additional","affiliation":[{"name":"Psychological Health Services , University Hospitals Bristol NHS Foundation Trust, Bristol Royal Hospital for Children , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Department of Gynaecology , University Hospitals Bristol NHS Foundation Trust, St Michael\u2019s Hospital , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal S.","family":"Lionakis","sequence":"additional","affiliation":[{"name":"Laboratory of Clinical Immunology and Microbiology , National Institute of Allergy and Infectious Diseases, National Institutes of Health , Bethesda , MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Roderick","sequence":"additional","affiliation":[{"name":"Department of Paediatric Infectious Diseases and Immunology , University Hospitals Bristol NHS Foundation Trust, Bristol Royal Hospital for Children , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toby","family":"Candler","sequence":"additional","affiliation":[{"name":"Department of Paediatric Diabetes and Endocrinology , University Hospitals Bristol NHS Foundation Trust, Bristol Royal Hospital for Children , Bristol , UK"},{"name":"NIHR Biomedical Research Centre (Diet & Physical Activity Theme), University of Bristol , Bristol , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,2,20]]},"reference":[{"key":"2026080613594067349_j_jpem-2025-0522_ref_001","doi-asserted-by":"crossref","unstructured":"Aaltonen, J, Bj\u00f6rses, P, Perheentupa, J, Horelli-Kuitunen, N, Palotie, A, Peltonen, L, et al.. 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