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Article

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

Arthritis and rheumatism - 1 Aug 2004

Frenkel Joost, van Kempen Marjan J A, Kuis Wietse, van Amstel Hans Kristian Ploos

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Identifiers

PMID: 15334500
DOI: 10.1002/art.20295

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Related research

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Research trail→

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Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.PMID 15334500Read ↗

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

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

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

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

Delayed reactivation of chronic infantile neurologic, cutaneous, articular syndrome (CINCA) in a patient with somatic mosaicism of CIAS1/NLRP3 gene after withdrawal of anti-IL-1 beta therapy.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 ↗

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

A fatal Turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CIAS1 gene mutation.Semantic proximity Read ↗

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

A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.Semantic proximity Read ↗

MICU1 mutation: a genetic cause for a type of neuromuscular disease in children.Semantic proximity Read ↗

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

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