BENTA sykdom
Engelsk navn: BENTA disease
Engelske synonym: B-cell expansion with NF-kB and T-cell anergy disease
A rare primary immunodeficiency characterized by infantile onset of generalized lymphadenopathy, splenomegaly, and lymphocytosis, with excessive polyclonal expansion of B-cells. Patients present recurrent infections and impaired T-cell and antibody responses, while overt autoimmune manifestations are usually absent. Occurrence of B-cell malignancy later in life has been reported.
Informasjon
Senter for sjeldne diagnoser ved OUS har kunnskap om diagnosen.
ORPHA: 464336
Klassifiseringsnivå: DisorderICD-10: D81.8