NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study
Background NLRP12-associated autoinflammatory disease (NLRP12-AID) is an autosomal dominant autoinflammatory disorder caused by variants of NLRP12 gene. We aimed to report a cohort of Chinese adult patients with NLRP12-AID and summarised phenotypes and genotypes.Methods Twenty patients were diagnose...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMJ Publishing Group
2023-10-01
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| Series: | RMD Open |
| Online Access: | https://rmdopen.bmj.com/content/9/4/e003598.full |
| _version_ | 1797366510083112960 |
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| author | Di Wu Min Shen Xin Huang Na Wu Junke Miao Jingyuan Zhang |
| author_facet | Di Wu Min Shen Xin Huang Na Wu Junke Miao Jingyuan Zhang |
| author_sort | Di Wu |
| collection | DOAJ |
| description | Background NLRP12-associated autoinflammatory disease (NLRP12-AID) is an autosomal dominant autoinflammatory disorder caused by variants of NLRP12 gene. We aimed to report a cohort of Chinese adult patients with NLRP12-AID and summarised phenotypes and genotypes.Methods Twenty patients were diagnosed with NLRP12-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 NLRP12-AID was performed, and the clinical features and mutated sites were summarised and compared with our cohort.Results Among the 20 NLRP12-AID patients, the main clinical features of NLRP12-AID included fever, cutaneous rash, arthralgia/arthritis, pharyngitis/tonsillitis, lymphadenopathy, myalgia and abdominal pain/diarrhoea. Thirteen NLRP12 variants were detected as F402L, G39V, R1030X, R7G, E24A, Q90X, A218V, A259V, W581X, G729R, R859W, c.-150T>C and c.*126G>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 NLRP12-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 NLRP12-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.Conclusion This is the largest cohort of NLRP12-AID in the world and seven novel variants of NLRP12 were identified. Chinese adult patients of NLRP12-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. |
| first_indexed | 2024-03-08T17:06:08Z |
| format | Article |
| id | doaj.art-a9fb668f71f24752861b64e56c66c9ea |
| institution | Directory Open Access Journal |
| issn | 2056-5933 |
| language | English |
| last_indexed | 2024-03-08T17:06:08Z |
| publishDate | 2023-10-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | RMD Open |
| spelling | doaj.art-a9fb668f71f24752861b64e56c66c9ea2024-01-04T05:25:06ZengBMJ Publishing GroupRMD Open2056-59332023-10-019410.1136/rmdopen-2023-003598NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre studyDi Wu0Min Shen1Xin Huang2Na Wu3Junke Miao4Jingyuan Zhang5Institute of Public Health, Guangzhou Medical University & Guangzhou Center for Disease Control and Prevention, Guangzhou, Guangdong, China1Division of Cancer Epidemiology and Genetics, National Cancer Institute, Nih, Dhhs, Rockville, USAGynecologic Oncololgy, Sun Yat-sen University Cancer Center, Guangzhou, Guangdong, China1 Department of Occupational Medicine and Toxicology, Clinical Center for Interstitial Lung Diseases, Beijing Institute of Respiratory Medicine, Beijing Chao-Yang Hospital, Capital Medical University, Beijing Chao-Yang Hospital, Capital Medical University, No.8 Worker’s Stadium, Chaoyang District. Beijing, ChinaDepartment 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, ChinaDepartment 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, ChinaBackground NLRP12-associated autoinflammatory disease (NLRP12-AID) is an autosomal dominant autoinflammatory disorder caused by variants of NLRP12 gene. We aimed to report a cohort of Chinese adult patients with NLRP12-AID and summarised phenotypes and genotypes.Methods Twenty patients were diagnosed with NLRP12-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 NLRP12-AID was performed, and the clinical features and mutated sites were summarised and compared with our cohort.Results Among the 20 NLRP12-AID patients, the main clinical features of NLRP12-AID included fever, cutaneous rash, arthralgia/arthritis, pharyngitis/tonsillitis, lymphadenopathy, myalgia and abdominal pain/diarrhoea. Thirteen NLRP12 variants were detected as F402L, G39V, R1030X, R7G, E24A, Q90X, A218V, A259V, W581X, G729R, R859W, c.-150T>C and c.*126G>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 NLRP12-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 NLRP12-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.Conclusion This is the largest cohort of NLRP12-AID in the world and seven novel variants of NLRP12 were identified. Chinese adult patients of NLRP12-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.https://rmdopen.bmj.com/content/9/4/e003598.full |
| spellingShingle | Di Wu Min Shen Xin Huang Na Wu Junke Miao Jingyuan Zhang NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study RMD Open |
| title | NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study |
| title_full | NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study |
| title_fullStr | NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study |
| title_full_unstemmed | NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study |
| title_short | NLRP12-associated autoinflammatory disease in Chinese adult patients: a single-centre study |
| title_sort | nlrp12 associated autoinflammatory disease in chinese adult patients a single centre study |
| url | https://rmdopen.bmj.com/content/9/4/e003598.full |
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