Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect
Abstract 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 inflammatio...
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| Format: | Book |
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BMC,
2021-01-01T00:00:00Z.
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