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.

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