{"title":"系统性青少年特发性关节炎合并PSTPIP1基因变异1例","authors":"Yutong Gao, Yuqing Chen","doi":"10.17352/2455-5282.000137","DOIUrl":null,"url":null,"abstract":"Objective: Systemic Juvenile Idiopathic Arthritis (SJIA) is a subtype of childhood rheumatoid arthritis, with the main clinical manifestations of high fever, recurrent rash, and arthritis. At present, it is generally believed that it is caused by the interaction of gene and environmental factors and has complex genetic characteristics. We report a case of a 1-year and 4-month SJIA patient with heterozygous mutation in PSTPIP1, and we studied the literature on this gene and related autoinfl ammatory diseases.","PeriodicalId":389545,"journal":{"name":"Global Journal of Medical and Clinical Case Reports","volume":"60 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2021-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Systemic juvenile idiopathic arthritis complicated with PSTPIP1 gene variant: A case report\",\"authors\":\"Yutong Gao, Yuqing Chen\",\"doi\":\"10.17352/2455-5282.000137\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Objective: Systemic Juvenile Idiopathic Arthritis (SJIA) is a subtype of childhood rheumatoid arthritis, with the main clinical manifestations of high fever, recurrent rash, and arthritis. At present, it is generally believed that it is caused by the interaction of gene and environmental factors and has complex genetic characteristics. We report a case of a 1-year and 4-month SJIA patient with heterozygous mutation in PSTPIP1, and we studied the literature on this gene and related autoinfl ammatory diseases.\",\"PeriodicalId\":389545,\"journal\":{\"name\":\"Global Journal of Medical and Clinical Case Reports\",\"volume\":\"60 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-08-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Global Journal of Medical and Clinical Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17352/2455-5282.000137\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Global Journal of Medical and Clinical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17352/2455-5282.000137","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Systemic juvenile idiopathic arthritis complicated with PSTPIP1 gene variant: A case report
Objective: Systemic Juvenile Idiopathic Arthritis (SJIA) is a subtype of childhood rheumatoid arthritis, with the main clinical manifestations of high fever, recurrent rash, and arthritis. At present, it is generally believed that it is caused by the interaction of gene and environmental factors and has complex genetic characteristics. We report a case of a 1-year and 4-month SJIA patient with heterozygous mutation in PSTPIP1, and we studied the literature on this gene and related autoinfl ammatory diseases.
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