Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.

doi:10.1007/s10875-022-01209-5

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Article

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.

Journal of clinical immunology - 1 Jul 2022

Naesens Leslie, Nemegeer Josephine, Roelens Filip, Vallaeys Lore, Meuwissen Marije, Janssens Katrien, Verloo Patrick, Ogunjimi Benson, Hemelsoet Dimitri, Hoste Levi, Roels Lisa, De Bruyne Marieke, De Baere Elfride, Van Dorpe Jo, Dendooven Amélie, Sieben Anne, Rice Gillian I, Kerre Tessa, Beyaert Rudi, Uggenti Carolina, Crow Yanick J, Tavernier Simon J, Maelfait Jonathan, Haerynck Filomeen

Abstract excerpt

BACKGROUND: Aicardi-Goutières syndrome (AGS) is a type I interferonopathy usually characterized by early-onset neurologic regression. Biallelic mutations in LSM11 and RNU7-1, components of the U7 small nuclear ribonucleoprotein (snRNP) complex, have been identified in a limited number of genetically unexplained AGS cases. Impairment of U7 snRNP function results in misprocessing of replication-dependent histone...

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Identifiers

PMID: 35320431
DOI: 10.1007/s10875-022-01209-5
PMCID: PMC9402729

Genes

CXCL10
CCL2
LSM11
STAT1

Provenance

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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