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Article

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

Pediatric rheumatology online journal - 22 Jan 2021

He Tingyan, Xia Yu, Yang Jun

Abstract excerpt

INTRODUCTION: 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...

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Identifiers

PMID: 33482855
DOI: 10.1186/s12969-021-00497-2
PMCID: PMC7821736

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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