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Article

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

Annals of the rheumatic diseases - 1 Jun 2013

Jiménez-Treviño Santiago, González-Roca Eva, Ruiz-Ortiz Estibaliz, Yagüe Jordi, Ramos Eduardo, Aróstegui Juan Ignacio

Abstract excerpt

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Topics

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Share to Carrier Proteins
Share to Cryopyrin-Associated Periodic Syndromes
Share to NLRP3 gene
Share to Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inflammasome and immune disorders

Share to Mosaicism

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Share to NLR Family, Pyrin Domain-Containing 3 Protein

Source

Identifiers

PMID: 23486414
DOI: 10.1136/annrheumdis-2012-202913

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

First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.PMID 23486414Read ↗

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

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

Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 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 ↗

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromesSemantic proximity Read ↗

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

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

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.Semantic proximity Read ↗

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

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.Semantic proximity Read ↗

Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children.Semantic proximity Read ↗

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