{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T22:43:55Z","timestamp":1773787435828,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T00:00:00Z","timestamp":1759449600000},"content-version":"vor","delay-in-days":275,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    Neonatal diabetes mellitus (NDM) is a rare and often misdiagnosed collection of disorders typically presenting in the first 6\u2009months of life, characterized by insulin deficiency and hyperglycemia. This case study discusses a neonate initially suspected of having sepsis due to nonspecific symptoms such as vomiting, increased work of breathing, and grunting. Upon further investigation, the child was diagnosed with neonatal diabetic ketoacidosis (DKA) and treated accordingly. Genetic testing and subsequent management revealed that the infant was hemizygous for a\n                    <jats:italic>FOXP3<\/jats:italic>\n                    missense variant, leading to a diagnosis of IPEX syndrome, an X\u2010linked autoimmune disorder with a poor prognosis. This case highlights the importance of considering NDM in differential diagnoses, especially when symptoms mimic other neonatal illnesses such as sepsis, and emphasizes the need for prompt recognition and management to prevent complications. In addition, this article outlines the management strategies for IPEX syndrome, including insulin therapy, immune suppression, and the potential for hematopoietic stem cell transplantation.\n                  <\/jats:p>","DOI":"10.1155\/crpe\/8888683","type":"journal-article","created":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T06:03:02Z","timestamp":1759557782000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Diabetic Ketoacidosis as the Presentation of Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X\u2010Linked Syndrome: A Case Report"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3426-0057","authenticated-orcid":false,"given":"Nicola","family":"Wolff","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,3]]},"reference":[{"key":"e_1_2_7_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(13)70059-7"},{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.540718"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.v2i3.131"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics13132271"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaip.2020.04.070"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.537"},{"key":"e_1_2_7_7_2","unstructured":"TanQ. K. LouieR. J. andSleasmanJ. W. IPEX Syndrome. Genereviews\u00ae[Internet] 2024."},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.24953\/turkjped.2019.03.016"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2023.11.021"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/eji.202149210"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crpe\/8888683","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crpe\/8888683","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crpe\/8888683","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T19:05:48Z","timestamp":1773774348000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crpe\/8888683"}},"subtitle":[],"editor":[{"given":"Maria","family":"Moschovi","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/crpe\/8888683"],"URL":"https:\/\/doi.org\/10.1155\/crpe\/8888683","archive":["Portico"],"relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"value":"2090-6803","type":"print"},{"value":"2090-6811","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-12-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8888683"}}