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

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Sept 2014

Jéru Isabelle, Cochet Emmanuelle, Duquesnoy Philippe, Hentgen Véronique, Copin Bruno, Mitjavila-Garcia Maria Teresa, Sheykholeslami Shayan, Le Borgne Gaëlle, Dastot-Le Moal Florence, Malan Valérie, Karabina Sonia, Mahevas Mathieu, Chantot-Bastaraud Sandra, Lecron Jean-Claude, Faivre Laurence, Amselem Serge

Abstract excerpt

OBJECTIVE: Autoinflammatory disorders are caused by a primary dysfunction of the innate immune system. Among these disorders are hereditary recurrent fevers, which are characterized by recurrent episodes of fever and inflammatory manifestations affecting multiple tissues. Hereditary recurrent fevers often lack objective diagnostic criteria, thereby hampering the identification of disease-causing genes. This study...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Receptor Activator of Nuclear Factor-kappa B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA Copy Number Variations

Share to TNF gene

Share to Genotype

Share to Hereditary Autoinflammatory Diseases

Share to Immunity, Innate

Source

Identifiers

PMID: 24891336
DOI: 10.1002/art.38727

Genes

TNF

Variants

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

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.PMID 24891336Read ↗

A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever.Semantic proximity Read ↗

The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.Semantic proximity Read ↗

Familial autoinflammatory diseases: genetics, pathogenesis and treatmentSemantic proximity Read ↗

Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis.Semantic proximity Read ↗

Tumor necrosis factor receptor-associated periodic syndrome as a cause of recurrent abdominal pain in identical twins and description of a novel mutation of the TNFRSF1A gene.Semantic proximity Read ↗

Brief Report: Association of Tumor Necrosis Factor Receptor–Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24‐Nucleotide <i>TNFRSF1A</i> DeletionSemantic proximity Read ↗

The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.Semantic proximity Read ↗

A new low-penetrance TNFRSF1A mutation causing atypical periodic fever.Semantic proximity Read ↗

Genetic analysis as a valuable key to diagnosis and treatment of periodic Fever.Semantic proximity Read ↗

A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS).Semantic proximity Read ↗

The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.Semantic proximity Read ↗

Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene.Semantic proximity Read ↗

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