{"title":"自发性疾病诊断规程","authors":"J. Ballano-Rodríguez-Solís , C. Arévalo-Cañas","doi":"10.1016/j.med.2025.04.025","DOIUrl":null,"url":null,"abstract":"<div><div>Autoinflammatory diseases are characterized by recurrent episodes of inflammation that are mainly mediated by the innate immune system and due to genetic mutations. Its diagnosis is challenging due to its low prevalence and phenotypic heterogeneity, especially in adults. After ruling out other more frequent diseases as the cause of the inflammatory phenomena, a genetic study is key to confirming the suspicion.</div></div>","PeriodicalId":100912,"journal":{"name":"Medicine - Programa de Formación Médica Continuada Acreditado","volume":"14 31","pages":"Pages 1904-1908"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Protocolo diagnóstico de las enfermedades autoinflamatorias\",\"authors\":\"J. Ballano-Rodríguez-Solís , C. Arévalo-Cañas\",\"doi\":\"10.1016/j.med.2025.04.025\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Autoinflammatory diseases are characterized by recurrent episodes of inflammation that are mainly mediated by the innate immune system and due to genetic mutations. Its diagnosis is challenging due to its low prevalence and phenotypic heterogeneity, especially in adults. After ruling out other more frequent diseases as the cause of the inflammatory phenomena, a genetic study is key to confirming the suspicion.</div></div>\",\"PeriodicalId\":100912,\"journal\":{\"name\":\"Medicine - Programa de Formación Médica Continuada Acreditado\",\"volume\":\"14 31\",\"pages\":\"Pages 1904-1908\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicine - Programa de Formación Médica Continuada Acreditado\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0304541225000988\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine - Programa de Formación Médica Continuada Acreditado","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0304541225000988","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Protocolo diagnóstico de las enfermedades autoinflamatorias
Autoinflammatory diseases are characterized by recurrent episodes of inflammation that are mainly mediated by the innate immune system and due to genetic mutations. Its diagnosis is challenging due to its low prevalence and phenotypic heterogeneity, especially in adults. After ruling out other more frequent diseases as the cause of the inflammatory phenomena, a genetic study is key to confirming the suspicion.
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