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Article

Genotype-phenotype correlations in pediatric CAPS with predominantly low-penetrance NLRP3 variants among Turkish patients in Germany and Turkey: beyond borders.

Pediatric rheumatology online journal - 11 Apr 2026

Bayindir Yagmur, Satirer Özlem, Cam Veysel, Turkmen Seyma, Sozeri Betul, Kuemmerle-Deschner Jasmin B, Ozen Seza

Abstract excerpt

BACKGROUND: The phenotypic heterogeneity and variable disease course of CAPS cannot be explained solely by NLRP3 mutations, suggesting additional environmental or modifying factors. This study aimed to characterize the phenotypic and genotypic features of Turkish-origin pediatric CAPS patients residing in Turkey (Turkish cohort) and Germany (German cohort). METHODS: This multicenter, retrospective study included...

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Source

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Identifiers

PMID: 41965684
DOI: 10.1186/s12969-026-01214-7
PMCID: PMC13072506

Genes

CAPS
NLRP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 10 Sept 2026.

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