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

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

The Journal of rheumatology - 1 Apr 2005

Hentgen Véronique, Despert Véronique, Leprêtre Anne-Claire, Cuisset Laurence, Chevrant-Breton Jacqueline, Jégo Patrick, Chalès Gérard, Gall Edouard Le, Delpech Marc, Grateau Gilles

Abstract excerpt

Among hereditary inflammatory disorders, Muckle-Wells syndrome, chronic infantile neurological cutaneous and articular syndrome (CINCA), and familial cold urticaria have recently been shown to be caused by dominantly inherited mutations in the CIAS1 gene. Reports suggest that these 3 diseases res...

Read the complete abstract on PubMed

Topics

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

Share to Arthritis
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Germ-Line Mutation

Share to Inflammation

Share to NLR Family, Pyrin Domain-Containing 3 Protein

Share to Syndrome

Share to Urticaria

Source

Identifiers

PMID: 15801036

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15801036-2026-09-02.2. 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

Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.PMID 15801036Read ↗

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

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

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 ↗

A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.Semantic proximity Read ↗

Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment.Semantic proximity Read ↗

Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome.Semantic proximity Read ↗

De novoCIAS1 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 diseasesSemantic proximity Read ↗

Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).Semantic proximity Read ↗

Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.Semantic proximity Read ↗

Somatic mosaicism of CIAS1/NLRP3 gene in two patients with chronic infantile neurologic, cutaneous, articular syndromeSemantic 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 ↗

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