Mohammad Reza Khosravi, Ghazal Abbasi, Leila Shahbaznejad, Javad Ghaffari, Abbas Dabghzade
{"title":"Ataxia-telangiectasia With Acute Rheumatic Fever: A Case Report","authors":"Mohammad Reza Khosravi, Ghazal Abbasi, Leila Shahbaznejad, Javad Ghaffari, Abbas Dabghzade","doi":"10.32598/jpr.11.3.961.1","DOIUrl":null,"url":null,"abstract":"Background: Ataxia-telangiectasia is a multi-organ disease. It is due to a mutation of the Exon No. 5 ataxia telangiectasia mutated gene (c.381delA: p.v128fls). Complications including recurrent infections, progressive cerebellar ataxia, and varying degrees of humoral and cellular immunodeficiency arise. Case Presentation: We report a 7-year-old girl patient with A-T who developed acute rheumatic fever. Conclusion: Rheumatoid disorders and or infectious diseases such as acute rheumatic fever could be observed in A-T patient.","PeriodicalId":43059,"journal":{"name":"Journal of Pediatrics Review","volume":"60 1","pages":"0"},"PeriodicalIF":0.3000,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatrics Review","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32598/jpr.11.3.961.1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Ataxia-telangiectasia is a multi-organ disease. It is due to a mutation of the Exon No. 5 ataxia telangiectasia mutated gene (c.381delA: p.v128fls). Complications including recurrent infections, progressive cerebellar ataxia, and varying degrees of humoral and cellular immunodeficiency arise. Case Presentation: We report a 7-year-old girl patient with A-T who developed acute rheumatic fever. Conclusion: Rheumatoid disorders and or infectious diseases such as acute rheumatic fever could be observed in A-T patient.