{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T21:06:15Z","timestamp":1789506375337,"version":"build-2803163510"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T00:00:00Z","timestamp":1770336000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006407","name":"Natural Science Foundation of Henan Province","doi-asserted-by":"publisher","award":["252300420122"],"award-info":[{"award-number":["252300420122"]}],"id":[{"id":"10.13039\/501100006407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>\n                    <jats:italic>NLRP12<\/jats:italic>\n                    -associated autoinflammatory disease (\n                    <jats:italic>NLRP12<\/jats:italic>\n                    -AID) is a rare monogenic disorder. The p.Glu619Gln (c.1855G\u202f&amp;gt;\u202fC) variant in\n                    <jats:italic>NLRP12<\/jats:italic>\n                    is classified as a variant of uncertain significance (VUS), with no previously reported clinical cases. We describe a 16-year-old Chinese girl with a 9-year history of periodic high fevers (&amp;gt;39\u202f\u00b0C), cold-triggered urticarial rashes, and polyarticular arthralgia. Previous misdiagnoses included recurrent infections and juvenile idiopathic arthritis. Laboratory tests showed elevated levels of interleukin-6 (IL-6) and acute-phase reactants. A lymph node biopsy confirmed necrotizing lymphadenitis. Extensive testing ruled out infections, autoimmune diseases, and cancers. Whole-exome sequencing identified a heterozygous\n                    <jats:italic>NLRP12<\/jats:italic>\n                    p.Glu619Gln variant. Structural analysis with AlphaFold2 predicted that the mutation causes local structural destabilization and impairs function. After treatment with baricitinib (2\u202fmg\/day), the patient experienced rapid symptom relief within 2\u202fweeks, with IL-6 levels decreasing from 17.8\u202fpg.\/mL to 2.1\u202fpg.\/mL and maintained clinical control over 12\u202fmonths of follow-up. This is the first reported case providing multiple lines of evidence linking the\n                    <jats:italic>NLRP12<\/jats:italic>\n                    p.Glu619Gln VUS to a typical autoinflammatory profile. Characteristic symptoms, inflammatory markers, histopathology, and a notable response to JAK inhibition support the diagnosis. Our findings suggest reclassifying this variant as likely pathogenic and propose baricitinib as a targeted therapy for\n                    <jats:italic>NLRP12<\/jats:italic>\n                    -AID.\n                  <\/jats:p>","DOI":"10.3389\/fmed.2026.1723843","type":"journal-article","created":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T06:56:02Z","timestamp":1770360962000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: A case of autoinflammatory disease with a novel NLRP12 variant\u2014clinical presentation and successful treatment with baricitinib"],"prefix":"10.3389","volume":"13","author":[{"given":"Wenjing","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Rheumatology and Immunology, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and Technology","place":["Luoyang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Genetics, Guangxi Medical University","place":["Nanning, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and Technology","place":["Luoyang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liqing","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and Technology","place":["Luoyang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongfeng","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Pathology, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and Technology","place":["Luoyang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Fan","sequence":"additional","affiliation":[{"name":"Office of Research & Innovation, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and Technology","place":["Luoyang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongwei","family":"Jiang","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and Technology","place":["Luoyang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofei","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, The First Affiliated Hospital, College of Clinical Medicine, Henan University of Science and Technology","place":["Luoyang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.pharmthera.2018.02.011","article-title":"Inflammasome biology, molecular pathology and therapeutic implications","volume":"187","author":"Awad","year":"2018","journal-title":"Pharmacol Ther"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1038\/nri.2016.58","article-title":"Inflammasomes: mechanism of assembly, regulation and signalling","volume":"16","author":"Broz","year":"2016","journal-title":"Nat Rev Immunol"},{"key":"ref3","volume-title":"*ClinVar: SCV004299900.2 -","year":"2025"},{"key":"ref4","volume-title":"*UniProtKB - P59046 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