急性风湿热伴共济失调毛细血管扩张1例

IF 0.3 Q4 PEDIATRICS Journal of Pediatrics Review Pub Date : 2023-07-01 DOI:10.32598/jpr.11.3.961.1
Mohammad Reza Khosravi, Ghazal Abbasi, Leila Shahbaznejad, Javad Ghaffari, Abbas Dabghzade
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引用次数: 0

摘要

背景:共济失调-毛细血管扩张是一种多器官疾病。这是由于外显子5号突变的共济失调毛细血管扩张突变基因(c.381delA: p.v128fls)。并发症包括复发性感染、进行性小脑共济失调和不同程度的体液和细胞免疫缺陷。病例介绍:我们报告一个7岁的女孩患有急性风湿热的a - t。结论:A-T患者可观察到类风湿疾病和/或感染性疾病,如急性风湿热。
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Ataxia-telangiectasia With Acute Rheumatic Fever: A Case Report
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.
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审稿时长
8 weeks
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