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 variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2007

Dalgic Buket, Egritas Odul, Sari Sinan, Cuisset Laurence

Abstract excerpt

Muckle-Wells syndrome (MWS) is a subset of autoinflammatory diseases. It is characterized by recurrent inflammatory crises associated with fever, abdominal pain, persistent urticaria, arthralgia, sensorineural deafness, and possible development of multiorgan amyloid A protein (AA)-type amyloidosi...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Amyloidosis
Share to Autoimmune Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carrier Proteins

Share to Inflammation

Share to Interleukin 1 Receptor Antagonist Protein

Share to NLR Family, Pyrin Domain-Containing 3 Protein

Share to Syndrome

Source

Identifiers

PMID: 17486372
DOI: 10.1007/s00467-007-0500-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17486372-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra.PMID 17486372Read ↗

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.Semantic proximity Read ↗

NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.Semantic proximity Read ↗

Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome.Semantic proximity Read ↗

Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.Semantic proximity Read ↗

Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra.Semantic proximity Read ↗

Muckle-Wells syndrome in Chinese patients: a single center case series.Semantic proximity Read ↗

[Muckle-Wells syndrome: a rare periodic fever syndrome].Semantic proximity Read ↗

Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the literature.Semantic proximity Read ↗

New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.Semantic proximity Read ↗

A cryopyrin-associated periodic syndrome with joint destruction.Semantic proximity Read ↗

Lasting remission of a Muckle-Wells syndrome with CIAS-1 mutation using half-dose anakinra.Semantic proximity Read ↗

Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations.Semantic proximity Read ↗

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