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GTR Home > Conditions/Phenotypes > BENTA disease

BENTA disease

Synonyms
B-cell expansion with NFKB and T-cell anergy
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

B-cell expansion with NFKB and T-cell anergy (BENTA) is an autosomal dominant disorder characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy (summary by Snow et al., 2012). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BENTA, BIMP3, CARMA1, IMD11, IMD11A, PPBL, CARD11
    Summary: caspase recruitment domain family member 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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