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Article

Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra.

Scandinavian journal of rheumatology - 1 Jan 2000

Kaipiainen-Seppänen O, Punnonen K, van Gijn M E, Mononen T

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to NLR Family, Pyrin Domain-Containing 3 Protein

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Identifiers

PMID: 18189199
DOI: 10.1080/03009740701691491

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra.PMID 18189199Read ↗

A case of familial cold autoinflammatory syndrome confirmed by the presence of a CIAS1 mutation.Semantic proximity Read ↗

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

Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic feverSemantic proximity Read ↗

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

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

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

Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome.Semantic proximity Read ↗

Novel Variant in the NLRP12 Gene: Insights From a Case Report and Systematic Review.Semantic proximity Read ↗

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiencySemantic proximity Read ↗

Anakinra as a diagnostic challenge and treatment option for systemic autoinflammatory disorders of undefined genetic causeSemantic proximity Read ↗

Inherited autoinflammatory recurrent fevers.Semantic proximity Read ↗

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndromeSemantic proximity Read ↗

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