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

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

Rheumatology (Oxford, England) - 1 Mar 2008

Maksimovic L, Stirnemann J, Caux F, Ravet N, Rouaghe S, Cuisset L, Letellier E, Grateau G, Morin A-S, Fain O

Abstract excerpt

OBJECTIVES: Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS) are rare periodic fevers associated with CIAS1 mutations. A third entity, the chronic infantile neurological, cutaneous, articular (CINCA) syndrome was also recently associated with mutation in the same gen...

Read the complete abstract on PubMed

Topics

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

Share to Arthralgia
Share to Autoimmune Diseases
Share to Chronic Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cold Temperature

Share to Interleukin 1 Receptor Antagonist Protein

Share to NLR Family, Pyrin Domain-Containing 3 Protein

Share to Urticaria

Source

Identifiers

PMID: 18174231
DOI: 10.1093/rheumatology/kem318

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18174231-2026-09-02.2. 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

New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.PMID 18174231Read ↗

Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.Semantic proximity Read ↗

CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.Semantic proximity Read ↗

Cryopyrin-associated periodic syndromes and autoinflammation.Semantic proximity Read ↗

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.Semantic proximity Read ↗

Auto inflammatory syndromes: Diagnosis and treatment.Semantic proximity Read ↗

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.Semantic proximity Read ↗

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

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

[Syndrome of Muckle-Wells and autoinflammatory familiar syndrome induced by cold].Semantic proximity Read ↗

"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies.Semantic proximity Read ↗

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

Good response to IL-1beta blockade by anakinra in a 23-year-old CINCA/NOMID patient without mutations in the CIAS1 gene. Cytokine profiles and functional studies.Semantic proximity Read ↗

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