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

A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report.

Pediatric rheumatology online journal - 4 Jan 2024

Weidler Sophia, Koss Sarah, Wolf Christine, Lucas Nadja, Brunner Jürgen, Lee-Kirsch Min Ae

Abstract excerpt

BACKGROUND: STING-associated vasculopathy with onset in infancy (SAVI) is a rare type I interferonopathy caused by heterozygous variants in the STING gene. In SAVI, STING variants confer a gain-of-function which causes overactivation of type I interferon (IFN) signaling leading to autoinflammation and various degrees of immunodeficiency and autoimmunity. CASE PRESENTATION: We report the case of a 5 year old child...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Immunologic Deficiency Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inflammation

Share to Interferon Type I

Share to Mutation

Share to Vascular Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 38178067
DOI: 10.1186/s12969-023-00934-4
PMCID: PMC10768237

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

A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report.PMID 38178067Read ↗

Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.Semantic proximity Read ↗

Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.Semantic proximity Read ↗

A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in InfancySemantic proximity Read ↗

[STING-associated vasculopathy with onset in infancy: a case report].Semantic proximity Read ↗

A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI).Semantic proximity Read ↗

Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature.Semantic proximity Read ↗

A novel STING variant triggers endothelial toxicity and SAVI disease.Semantic proximity Read ↗

STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib.Semantic proximity Read ↗

Severe interstitial lung disease as the first manifestation of a STING1 variant in a familial case.Semantic proximity Read ↗

Case Report: Acute Thrombotic Microangiopathy in a Patient with STING-Associated Vasculopathy with Onset in Infancy (SAVI).Semantic proximity Read ↗

Interstitial lung disease and the STING pathway.Semantic proximity Read ↗

STING-Associated Vasculopathy with Onset in Infancy — A New InterferonopathySemantic proximity Read ↗

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