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BENTA disease

ORPHA:464336· ICD-10 D81.8

Definition

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Infancy