The clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.

ABSTRACT:

Background

Idiopathic 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.

Methods

Clinical 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 patie

SUBMITTER: Du Y 

PROVIDER: S-EPMC12916848 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature