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Article

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.

Journal of clinical immunology - 1 Mar 2008

Jesus Adriana A, Silva Clovis A, Segundo Gesmar R, Aksentijevich Ivona, Fujihira Erika, Watanabe Mônica, Carneiro-Sampaio Magda, Duarte Alberto J S, Oliveira João B

Abstract excerpt

We describe in this paper the phenotype-genotype analysis of a Brazilian cohort of patients with cryopyrin-associated periodic syndromes (CAPS). Patient 1 presented with an urticarial rash and recurrent fever exacerbated by cold weather, arthritis, and anterior uveitis, thus, receiving a clinical diagnosis of familial cold autoinflammatory syndrome. CIAS1 sequencing identified the T436I mutation, previously...

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Source

Identifiers

PMID: 18080732
DOI: 10.1007/s10875-007-9150-7

Genes

CAPS

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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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