Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

doi:10.1016/j.ymgme.2017.07.006

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

Community

Back to search

Article

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Molecular genetics and metabolism - 1 Nov 2017

Armangue Thais, Orsini Joseph J, Takanohashi Asako, Gavazzi Francesco, Conant Alex, Ulrick Nicole, Morrissey Mark A, Nahhas Norah, Helman Guy, Gordish-Dressman Heather, Orcesi Simona, Tonduti Davide, Stutterd Chloe, van Haren Keith, Toro Camilo, Iglesias Alejandro D, van der Knaap Marjo S, Goldbach Mansky Raphaela, Moser Anne B, Jones Richard O, Vanderver Adeline

Abstract excerpt

BACKGROUND: Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy associated with systemic autoinflammation causing interferon (IFN) elevation, central nervous system calcifications, leukodystrophy and severe neurologic sequelae. An infant with TREX1 mutations was recently found to have abnormal C26:0 lysophosphatidylcholine (C26:0 Lyso-PC) in a newborn screening platform for X-linked...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromatography, Liquid

Share to Dried Blood Spot Testing

Share to Exodeoxyribonucleases

Share to Interferons

Share to Neonatal Screening

Share to Nervous System Malformations

Share to Tandem Mass Spectrometry

Source

Open in PubMed Open full text

Identifiers

PMID: 28739201
DOI: 10.1016/j.ymgme.2017.07.006
PMCID: PMC5722655

Genes

TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.PMID 28739201Read ↗

Type I Interferonopathies in Childhood.Semantic proximity Read ↗

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic ConditionsSemantic proximity Read ↗

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North CarolinaSemantic proximity Read ↗

Newborn Screening for Metachromatic Leukodystrophy: Care Pathway and Early Clinical Outcomes from German and Austrian Pilot ProgramsSemantic proximity Read ↗

Diagnosis of Chediak Higashi disease in a 67-year old woman.Semantic proximity Read ↗

[When to consider type I interferonopathy in adulthood?]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 ↗

Integration and comparison of multi-omics profiles of NGLY1 deficiency plasma and cellular models to identify clinically relevant molecular phenotypesSemantic proximity Read ↗

Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndromeSemantic proximity Read ↗

Neonatal cholestasis: emerging molecular diagnostics and potential novel therapeuticsSemantic proximity Read ↗

Presence of Lipid Vacuoles in Kupffer Cells as a Marker for Early Detection of Niemann-Pick Disease Type C in Neonatal CholestasisSemantic proximity Read ↗

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

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