Article

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

2014-01-01

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4e07966d-5dda-58a2-b549-b5c3700f5c79
DOI: 10.1186/1546-0096-12-s1-p84
PMCID: PMC4184339

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Somatic mosaicism of CIAS1/NLRP3 gene in two patients with chronic infantile neurologic, cutaneous, articular syndromeDOI 10.1186/1546-0096-12-s1-p84Read

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

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

High incidence of <i>NLRP3</i> somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative studySemantic proximity Read

Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.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 somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.Semantic proximity Read

Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, 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

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

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

An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K.Semantic proximity Read

Diagnosis of NLRP3 somatic mosaicism in CINCA/NOMID patients using next-generation sequencingSemantic proximity Read