ArticleCommunications medicine2026
The clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.
Article in Communications medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
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Authors and funding
19 authors.
Funding
Abstract
backgroundIdiopathic Multicentric Castleman Disease, Thrombocytopenia, Anasarca, Fever, Reticulin Fibrosis, Organomegaly (iMCD-TAFRO) is a rare cytokine storm syndrome with high mortality. Pathogenesis of Castleman disease (CD) remain largely unknown. We aim to unravel the role of Mediterranean fever gene MEFV variants, the key gene variants implicated in familial Mediterranean fever, in CD.
methodsClinical data from a retrospective cohort of 37 patients with CD were collected. Blood and/or lymph node biopsy specimens were obtained for whole-exome sequencing. In vitro lipopolysaccharide stimulation experiment and single-cell RNA-sequencing (scRNA-seq) were performed to characterize the immune signature using peripheral blood mononuclear cells from an adolescent TAFRO patient, his asymptomatic parents, and a healthy control. The relative gene expression were examined by quantitative PCR. Cytokine levels were assessed using Luminex. Statistics were performed by SPSS and GraphPad Prism.
resultsHere we show an adolescent TAFRO patient with familial MEFV mutations demonstrates responsiveness to anti-IL-6 containing therapy. Through comprehensive analysis of a cohort of 37 CD patients, we observe a high prevalence of MEFV mutations (76%, 28/37). Notably, the MEFV E148Q-P369S-R408Q variant is present in 19% (7/37) of all patients and 50% (2/4) of the TAFRO subtype, with variant carriers exhibiting more severe disease course. Inflammation responses experiments and scRNA landscape reveal that MEFV expression is dominant in CD16
conclusionsThis study presents one of the largest cohorts demonstrating the high prevalence of MEFV variants in CD, providing important insights for understanding and treating CD, particularly TAFRO.
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