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Article

A case of cryopyrin-associated periodic fever syndrome due to Q703K mutation in the NLRP3 gene.

International journal of rheumatic diseases - 1 Dec 2017

Ling Eduard, Ling Galina, Pinsk Vered

Abstract excerpt

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Topics

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Share to Arthritis, Juvenile
Share to Child
Share to Cryopyrin-Associated Periodic Syndromes
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunosuppressive Agents

Share to NLR Family, Pyrin Domain-Containing 3 Protein

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Source

Identifiers

PMID: 27943647
DOI: 10.1111/1756-185X.12991

Genes

NLRP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of cryopyrin-associated periodic fever syndrome due to Q703K mutation in the NLRP3 gene.PMID 27943647Read ↗

Cryopyrin-associated periodic fever syndrome presenting with fevers and serositis related to a novel NLRP3 gene mutation.Semantic proximity Read ↗

An Adult Patient With a Novel Mutation in NLRP3 Gene Associated With Cryopyrin-Associated Periodic Syndrome Mimicking Adult-Onset Still Disease.Semantic proximity Read ↗

Cryopyrin-associated Periodic Syndrome in a Family with NLRP3 A441V Mutation.Semantic proximity Read ↗

Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation.Semantic proximity Read ↗

Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies.Semantic proximity Read ↗

The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patientsSemantic proximity Read ↗

Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature.Semantic proximity Read ↗

A case of cryopyrin-associated periodic syndrome presenting with abdominal symptoms due to a novel mutation NLRP3 p.Ile257Met.Semantic proximity Read ↗

Three generations of suffering: cryopyrin-associated periodic syndrome with NLRP3 mutation in a family.Semantic proximity Read ↗

Identification of a Variant in NLRP3 Gene in a Patient with Muckle-Wells Syndrome: A Case ReportSemantic proximity Read ↗

First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.Semantic proximity Read ↗

Low-level NLRP3 somatic mosaicism in adult-onset cryopyrin-associated periodic syndrome misdiagnosed as chronic urticaria.Semantic proximity Read ↗

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