{"title":"VEXAS综合征:一种新发现的系统性风湿病。","authors":"Eugenisz J Kucharz","doi":"10.5114/reum/163090","DOIUrl":null,"url":null,"abstract":"<p><p>VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients. VEXAS syndrome is caused by a somatic mutation of the <i>UBA1</i> gene in hematopoietic progenitor cells. The clinical picture of the syndrome consists of a number of organ manifestations including those akin to rheumatic diseases, arthritis, myalgia, vasculitis and chondritis.</p>","PeriodicalId":21312,"journal":{"name":"Reumatologia","volume":null,"pages":null},"PeriodicalIF":1.4000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/77/ad/RU-61-163090.PMC10201379.pdf","citationCount":"1","resultStr":"{\"title\":\"VEXAS syndrome: a newly discovered systemic rheumatic disorder.\",\"authors\":\"Eugenisz J Kucharz\",\"doi\":\"10.5114/reum/163090\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients. VEXAS syndrome is caused by a somatic mutation of the <i>UBA1</i> gene in hematopoietic progenitor cells. The clinical picture of the syndrome consists of a number of organ manifestations including those akin to rheumatic diseases, arthritis, myalgia, vasculitis and chondritis.</p>\",\"PeriodicalId\":21312,\"journal\":{\"name\":\"Reumatologia\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/77/ad/RU-61-163090.PMC10201379.pdf\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Reumatologia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5114/reum/163090\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"RHEUMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reumatologia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5114/reum/163090","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"RHEUMATOLOGY","Score":null,"Total":0}
VEXAS syndrome: a newly discovered systemic rheumatic disorder.
VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients. VEXAS syndrome is caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells. The clinical picture of the syndrome consists of a number of organ manifestations including those akin to rheumatic diseases, arthritis, myalgia, vasculitis and chondritis.
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