{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T01:37:09Z","timestamp":1785461829540,"version":"3.56.0"},"reference-count":45,"publisher":"BMJ","issue":"4","license":[{"start":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T00:00:00Z","timestamp":1703030400000},"content-version":"unspecified","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"National High Level Hospital Clinical Research Funding","award":["2022-PUMCH-B-013"],"award-info":[{"award-number":["2022-PUMCH-B-013"]}]},{"name":"National High Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-002"],"award-info":[{"award-number":["2022-PUMCH-D-002"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["RMD Open"],"accepted":{"date-parts":[[2023,11,27]]},"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>\n                     <jats:italic>NLRP12<\/jats:italic>-associated autoinflammatory disease (<jats:italic>NLRP12<\/jats:italic>-AID) is an autosomal dominant autoinflammatory disorder caused by variants of <jats:italic>NLRP12<\/jats:italic> gene. We aimed to report a cohort of Chinese adult patients with <jats:italic>NLRP12<\/jats:italic>-AID and summarised phenotypes and genotypes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Twenty patients were diagnosed with <jats:italic>NLRP12<\/jats:italic>-AID after performing whole-exome sequencing and were included in our cohort. Demographic information, clinical data and treatment response were collected and evaluated. A literature review of <jats:italic>NLRP12<\/jats:italic>-AID was performed, and the clinical features and mutated sites were summarised and compared with our cohort.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Among the 20 <jats:italic>NLRP12<\/jats:italic>-AID patients, the main clinical features of <jats:italic>NLRP12<\/jats:italic>-AID included fever, cutaneous rash, arthralgia\/arthritis, pharyngitis\/tonsillitis, lymphadenopathy, myalgia and abdominal pain\/diarrhoea. Thirteen <jats:italic>NLRP12<\/jats:italic> variants were detected as F402L, G39V, R1030X, R7G, E24A, Q90X, A218V, A259V, W581X, G729R, R859W, c.-150T&gt;C\u2009and c.*126G&gt;C. Glucocorticoids were used in 14 patients, immunosuppressive agents in 13, and tocilizumab in 2. Seventeen patients had good responses to therapy. When compared with 50 <jats:italic>NLRP12<\/jats:italic>-AID patients from other countries, Chinese patients had fewer variants in exon 3, higher incidences of cutaneous rash, pharyngitis\/tonsillitis and lymphadenopathy. Among all these 70 <jats:italic>NLRP12<\/jats:italic>-AID patients, patients carrying non-exon-3 variants had higher frequencies of ocular involvement, pharyngitis\/tonsillitis, headache and lymphadenopathy than those with exon-3 variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This is the largest cohort of <jats:italic>NLRP12<\/jats:italic>-AID in the world and seven novel variants of <jats:italic>NLRP12<\/jats:italic> were identified. Chinese adult patients of <jats:italic>NLRP12<\/jats:italic>-AID had more non-specific symptoms such as pharyngitis\/tonsillitis and lymphadenopathy when compared with patients from other countries, for which the less occurrence of exon-3 variants might be one possible reason.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/rmdopen-2023-003598","type":"journal-article","created":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T21:40:28Z","timestamp":1703108428000},"page":"e003598","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["<i>NLRP12<\/i>-associated autoinflammatory disease in Chinese adult patients: a single-centre study"],"prefix":"10.1136","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3453-6850","authenticated-orcid":false,"given":"Junke","family":"Miao","sequence":"first","affiliation":[{"name":"Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingyuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5447-1129","authenticated-orcid":false,"given":"Xin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1611-3945","authenticated-orcid":false,"given":"Na","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 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