{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:52:41Z","timestamp":1753883561446,"version":"3.41.2"},"reference-count":17,"publisher":"The Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T00:00:00Z","timestamp":1746144000000},"content-version":"vor","delay-in-days":14,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease caused by a monogenic pathogenic mutation in the autoimmune regulator (AIRE) gene. AIRE is a transcriptional regulatory gene expressed within thymic medullary cells, which play a critical role in developing central immune tolerance. APECED is classically associated with the triad of chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. We report a case of a pediatric patient with a known history of APECED who presented with symptomatic megaloblastic anemia and was found to have vitamin B12 deficiency secondary to the presence of antibodies to intrinsic factors. Interestingly, our patient did not have gastric parietal cell antibodies, which are present in 90% of pernicious anemia cases. Pernicious anemia itself is relatively rare and primarily manifests in the elderly population. There is limited literature involving pernicious anemia within the pediatric population, specifically within the subgroup that has APECED. Screening and early recognition of pernicious anemia in this relatively rare condition is crucial, as it has the potential to be life-threatening if left unaddressed.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf090","type":"journal-article","created":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T07:39:07Z","timestamp":1746171547000},"source":"Crossref","is-referenced-by-count":0,"title":["Pernicious Anemia in a Pediatric Patient With Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2044-6806","authenticated-orcid":false,"given":"Konstandina","family":"Kokinakos","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Rutgers, Robert Wood Johnson Medical School, New Brunswick, NJ 08901 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marissa","family":"Botwinick","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rutgers, Robert Wood Johnson Medical School, New Brunswick, NJ 08901 ,","place":["USA"]},{"name":"Department of Pediatric Hematology and Oncology, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ 08901 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Weidner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rutgers, Robert Wood Johnson Medical School, New Brunswick, NJ 08901 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Drachtman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rutgers, Robert Wood Johnson Medical School, New Brunswick, NJ 08901 ,","place":["USA"]},{"name":"Department of Pediatric Hematology and Oncology, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ 08901 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,5,2]]},"reference":[{"issue":"12","key":"2025050203390179800_luaf090-B1","doi-asserted-by":"crossref","first-page":"11505","DOI":"10.1074\/jbc.M413959200","article-title":"NMR structure of the first PHD finger of autoimmune regulator protein (AIRE1). Insights into autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) disease","volume":"280","author":"Bottomley","year":"2005","journal-title":"J Biol Chem"},{"issue":"2","key":"2025050203390179800_luaf090-B2","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S0022-3476(64)80268-7","article-title":"Pernicious anemia in a young girl associated with idiopathic hypoparathyroidism, familial addison's disease, and moniliasis","volume":"64","author":"Quinto","year":"1964","journal-title":"J Pediatr"},{"issue":"13","key":"2025050203390179800_luaf090-B3","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1056\/NEJM196309262691303","article-title":"A possible autoimmune basis for Addison's disease in three siblings, one with idiopathic hypoparathyroidism, pernicious anemia, and superficial moniliasis","volume":"269","author":"Hung","year":"1963","journal-title":"N Engl J 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