BENTA disease

Disease Export to PDF
Name:
BENTA disease
Description:
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.
ORPHAcode:
464336
Synonyms:
B-cell expansion with NF-kB and T-cell anergy disease
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14