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Article

Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies.

Rheumatology international - 1 Jan 2021

Paim-Marques Luciana B, Cavalcante Amanda, Castro Catherine, Muskardin Theresa L Wampler, de Oliveira João Bosco, Niewold Timothy B, Appenzeller Simone

Abstract excerpt

Cryopyrin-associated periodic syndromes (CAPS) are a group of autoinflammatory diseases associated with NLRP3 gain of function mutations. CAPS associated mutations are found predominantly in exon 3. The objective of this study is to describe a new variant on NRLP3 gene and its phenotype. Case report description of a new NRLP3 pathogenic variant and literature case-based search through INFEVERS database. A 21-year...

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Share to Antibodies, Monoclonal, Humanized
Share to Cryopyrin-Associated Periodic Syndromes

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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Share to Young Adult

Source

Identifiers

PMID: 32813153
DOI: 10.1007/s00296-020-04683-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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