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Article

Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome.

Frontiers in immunology - 1 Jan 2021

Garau Jessica, Masnada Silvia, Dragoni Francesca, Sproviero Daisy, Fogolari Federico, Gagliardi Stella, Izzo Giana, Varesio Costanza, Orcesi Simona, Veggiotti Pierangelo, Zuccotti Gian Vincenzo, Pansarasa Orietta, Tonduti Davide, Cereda Cristina

Abstract excerpt

Aicardi-Goutières Syndrome (AGS) is a rare disorder characterized by neurological and immunological signs. In this study we have described a child with a phenotype consistent with AGS carrying a novel compound heterozygous mutation in RNASEH2B gene. Next Generation Sequencing revealed two heterozygous variants in RNASEH2B gene. We also highlighted a reduction of RNase H2B transcript and protein levels in all the...

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Identifiers

PMID: 33981319
DOI: 10.3389/fimmu.2021.672952
PMCID: PMC8107470

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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