Article

Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect

2020-08-31

Abstract excerpt

<h4>Introduction: </h4> Aicardi-Goutières (AGS) is a rare immune dysregulated disease due to mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or IFIH1. Clinical features include basal ganglia calcifications, white matter abnormalities, and cerebral atrophy. Severe systemic inflammation and chronic kidney disease (CKD) are extremely rare in AGS. Herein, we report a patient presenting with systemic i...

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Literature Corpus work: 5247f388-4978-5fcb-8f2c-266e376ad1e9
DOI: 10.21203/rs.3.rs-33775/v2

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