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

Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation.

Neuropediatrics - 1 Oct 2024

Železnik Mojca, Vesnaver Tina Vipotnik, Neubauer David, Soltirovska-Šalamon Aneta

Abstract excerpt

Aicardi-Goutières syndrome (AGS) is a rare genetic early-onset progressive encephalopathy with variable clinical manifestations. The IFIH1 mutation has been confirmed to be responsible for type I interferon production and activation of the Janus kinase signaling pathway. We herein stress neurological observations and neuroimaging findings in a severe case report of an infant with AGS type 7 due to an IFIH1...

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 Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Interferon-Induced Helicase, IFIH1

Share to Mutation

Share to Nervous System Malformations

Source

Identifiers

PMID: 38714209
DOI: 10.1055/a-2321-0597

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation.PMID 38714209Read ↗

Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.Semantic proximity Read ↗

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

PNPT1 mutations may cause Aicardi-Goutières-Syndrome.Semantic proximity Read ↗

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.Semantic proximity Read ↗

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

The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.Semantic proximity Read ↗

Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency.Semantic proximity Read ↗

Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib.Semantic proximity Read ↗

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.Semantic proximity Read ↗

Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome.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 ↗

Systemic complications of Aicardi Goutières syndrome using real-world data.Semantic proximity Read ↗

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