Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases].

Revista de neurologia - 16 Feb 2016

Ortiz-Madinaveitia Saturnino, Conejo-Moreno David, López-Pisón Javier, Peña-Segura José Luis, Serrano-Madrid M Luisa, Durán-Palacios Ingrid C, Peláez-Cabo Pilar

Abstract excerpt

INTRODUCTION: Aicardi-Goutieres syndrome is a rare immune disorder due to mutations in seven different genes that encode proteins called TREX1, ribonuclease H2 complex, SAMHD1, ADAR and IDIH1 (MDA5), which are involved in acid nucleic metabolism. Two cases are described in detail below caused by RNASEH2B gene mutation, one of which displays a mutation no described to date. CASE REPORTS: Case 1: male consulting...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoimmune Diseases of the Nervous System
Share to Basal Ganglia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Biopterins

Share to Calcinosis

Share to Muscle Spasticity

Share to Nervous System Malformations

Share to Neuroimaging

Share to Ribonuclease H

Source

Identifiers

PMID: 26860721

Genes

ADAR
SAMHD1
TREX1
IFIH1

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases].PMID 26860721Read ↗

[Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene].Semantic proximity Read ↗

Aicardi-Goutières syndrome: A monogenic type I interferonopathy.Semantic proximity Read ↗

Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome.Semantic proximity Read ↗

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.Semantic proximity Read ↗

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.Semantic proximity Read ↗

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewSemantic proximity Read ↗

Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation.Semantic proximity Read ↗

[Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report].Semantic proximity Read ↗

[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].Semantic proximity Read ↗

Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.Semantic proximity Read ↗

Aicardi-Goutières syndrome (AGS).Semantic proximity Read ↗

Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.