{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:33:22Z","timestamp":1786649602684,"version":"build-2736575974"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>Chronic mucocutaneous candidiasis (CMC) is a condition characterized by persistent or recurrent infections caused by candida species. Gain-of-function (GOF) mutations in signal transducer and activator of transcription-1 (STAT1) have been identified as a major cause of CMC and are linked to a broad clinical spectrum, including increased susceptibility to infections and vascular abnormalities. We present the case of aortic calcification in a patient with a STAT1 GOF mutation. The 8-year-old male patient had recurrent oral ulcers, upper respiratory tract infections, and pneumonia, and was found to have calcifications in the aortic arch and branches. Treatment with ruxolitinib led to significant clinical improvement, although no regression in aortic calcification was observed. STAT1 GOF mutations may enhance a pro-osteogenic environment through sustained activation of the Janus Kinase (JAK)-STAT pathway. This case highlights the potential link between STAT1 GOF mutations and vascular calcification and underscores the need for further investigation into the long-term vascular impact of JAK inhibition.<\/jats:p>","DOI":"10.4103\/apc.apc_270_25","type":"journal-article","created":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T07:00:29Z","timestamp":1776236429000},"page":"79-83","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Aortic calcification in a patient with a STAT1 mutation"],"prefix":"10.4103","volume":"19","author":[{"given":"Gamze","family":"Sonmez","sequence":"first","affiliation":[{"name":"Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sinem Nur","family":"Selcuk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mithat","family":"Halilo\u011flu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Cagdas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology, Pediatric Basic Sciences, Institute of Child Health, Hacettepe University, Ankara, Turkey"},{"name":"Ihsan Dogramaci Childrens\u2019 Hospital, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,4,15]]},"reference":[{"key":"R1-20260420","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1016\/j.jaci.2014.05.044","article-title":"Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied 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