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Article

Majeed syndrome: first description in a patient of central-European ancestry.

Rheumatology (Oxford, England) - 1 May 2025

Drago Enrico, Bertoni Arinna, Grossi Alice, Damasio Maria Beatrice, Anfigeno Lorenzo, Miano Maurizio, Papa Riccardo, Volpi Stefano, Ceccherini Isabella, Gattorno Marco, Caorsi Roberta

Abstract excerpt

OBJECTIVES: We present the first case of a Majeed syndrome in a girl of central-European ancestry. METHODS: Patient's medical records were reviewed. A next-generation sequencing (NGS) panel for autoinflammatory diseases was performed and the mutation was confirmed by Sanger analysis. Freshly isolated monocytes were activated with lipopolysaccharide ± ATP. The concentration of inflammatory cytokines was assessed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39255247
DOI: 10.1093/rheumatology/keae480
PMCID: PMC12048069

Genes

LPIN2
NLRP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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