{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:18:19Z","timestamp":1787894299159,"version":"build-2784847793"},"reference-count":49,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T00:00:00Z","timestamp":1787875200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>\n                    Infantile-onset Multisystem Autoimmune Disease type 1(ADMIO, 1) is a rare hereditary autoimmune disorder primarily caused by\n                    <jats:italic>STAT3<\/jats:italic>\n                    gain-of-function (GOF) mutations. This article presents a case of ADMIO type 1 resulting from a\n                    <jats:italic>de novo STAT3<\/jats:italic>\n                    GOF mutation. The subject is a male infant who presented with a recurrent rash on both lower limbs. He had a 9-month history of vasculitis, initially diagnosed as Henoch-Sch\u00f6nlein purpura(HSP), with recurrent purpura, ankle arthritis, livedo reticularis, and chronic diarrhea. Diagnosis was confirmed via whole-exome sequencing identifying a heterozygous\n                    <jats:italic>STAT3<\/jats:italic>\n                    mutation (c.2107G&amp;gt;A, p.A703T). Symptoms recurred frequently during corticosteroid tapering. Due to his genetic findings, targeted therapy was required. Initial treatment with tocilizumab provided short-lived benefit. Following recurrent lymphadenitis and polyarthritis, adalimumab, tofacitinib, ruxolitinib emerged as a key anti-inflammatory intervention to treat the disease. This case enriches the rare disease database and helps raise clinicians\u2019 awareness of and attention to ADMIO type 1 disease.\n                  <\/jats:p>","DOI":"10.3389\/fimmu.2026.1824739","type":"journal-article","created":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T04:33:06Z","timestamp":1787891586000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A case report of ADMIO type 1 caused by a de novo STAT3 gain-of-function mutation"],"prefix":"10.3389","volume":"17","author":[{"given":"Lan","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatology Immunology, Affiliated Hospital of Xuzhou Medical University","place":["Xuzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Yue","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatology Immunology, Affiliated Hospital of Xuzhou Medical University","place":["Xuzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanhui","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatology Immunology, Affiliated Hospital of Xuzhou Medical University","place":["Xuzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houhua","family":"Hao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatology Immunology, Affiliated Hospital of Xuzhou Medical University","place":["Xuzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengjun","family":"Guan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatology Immunology, Affiliated Hospital of Xuzhou Medical University","place":["Xuzhou, Jiangsu, 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