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

Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.

Frontiers in immunology - 1 Jan 2024

Prieto-Peña Diana, Labrador-Sánchez Eztizen, Melero-González Rafael B, Antón-Pagés Fred, Palmou-Fontana Natalia, Alvarez-Reguera Carmen, Paz-Gandiaga Nerea, Blanco Ricardo

Abstract excerpt

Objective: Next-generation sequencing (NGS) panels are increasingly used for the diagnosis of monogenic systemic autoinflammatory diseases (SAIDs). However, their role in patients with adult-onset Still's disease (AOSD) remains unknown. This study aims to assess the usefulness of NGS panels in AOSD patients to improve diagnosis and management of the disease. Methods: This observational, multicenter study included...

Topics

Join the communities discussing this publication.

Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Mutation
Nod2 Signaling Adaptor Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Tumor Necrosis Factor, Type I

Tumor Necrosis Factor alpha-Induced Protein 3

Source

Open in PubMed Open full text

Identifiers

PMID: 39611152
DOI: 10.3389/fimmu.2024.1474271
PMCID: PMC11603180

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular genetics in adult-onset Still's disease: next-generation sequencing in 24 patients and literature review.PMID 39611152Read ↗

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing EraSemantic proximity Read ↗

Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.Semantic proximity Read ↗

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.Semantic proximity Read ↗

Current and future advances in genetic testing in systemic autoinflammatory diseases.Semantic proximity Read ↗

Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.Semantic proximity Read ↗

Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?Semantic proximity Read ↗

Consanguinity and rare monogenic systemic autoinflammatory disorders: implications for prevalence and genetic variability.Semantic proximity Read ↗

Adult-onset Still's disease.Semantic proximity Read ↗

Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases.Semantic proximity Read ↗

Genotype-phenotype correlations in autoimmune and autoinflammatory diseases: An NGS-based immunogenetic cohort study.Semantic proximity Read ↗

Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.Semantic proximity Read ↗

Next-generation sequencing reveals genetic heterogeneity in MEFV-negative or heterozygous familial Mediterranean fever: a retrospective study.Semantic proximity Read ↗

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