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Article

TNFRSF11A variants contribute to systemic autoinflammatory diseases: A case series of 12 patients.

Seminars in arthritis and rheumatism - 1 Oct 2024

Papatheodorou Vasileios, Gerodimos Charalampos, Dimitrakopoulos Antonios, Lada Efrosini, Tektonidou Maria G, Germenis Anastasios, Sfikakis Petros P, Laskari Katerina

Abstract excerpt

BACKGROUND: Limited evidence suggests that variants in TNFRSF11A gene, encoding RANK, may contribute to systemic autoinflammatory disease (SAID). AIM/METHODS: To estimate the prevalence of TNFRSF11A variants in a cohort of patients with SAIDs screened for 26 related genes and describe the disease phenotypic expression. RESULTS: A total of 12 out of 167 patients, 7 males, aged (median) 38 years at disease onset,...

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PMID: 39003954
DOI: 10.1016/j.semarthrit.2024.152505

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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