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 a...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Mazandaran University of Medical Sciences
2023-07-01
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| Series: | Journal of Pediatrics Review |
| Subjects: | |
| Online Access: | http://jpr.mazums.ac.ir/article-1-506-en.pdf |
| Summary: | 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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| ISSN: | 2322-4398 2322-4401 |