Information on BENTA

Basic details

Name: B-cell expansion with NFKB and T-cell anergy | Acronym: BENTA
Alt. names:

Gene: CARD11 | MOI: Autosomal dominant | Mechanism of action: Gain of Function

No. of cases in DB: 0 | First reported in: 2012

Last updated on: 2023-02-28 16:41:18 by

OMIM: 616452

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

For Immunodeficiency 11A and 11B and B-cell expansion with NFKB and T-cell anergy, individuals may be prone to frequent infections, and prophylactic measures, as well as early and aggressive treatment of infections may be beneficial; For B-cell expansion with NFKB and T-cell anergy, individuals may be predisposed to B cell malignancy, and awareness may allow early recognition and management; HSCT has been described in Congenital B cell lymphocytosis. Refs. PMIDs: 23129749; 23374270; 23561803; 25352053; 25930198

Management

Description of management option has not been reviewed yet.

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0 reported cases added to GenIA

SubjectID	Sex	Fam.ID	AD	AFM	Validity	Country	Population	Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank	Clinical term	Present
1	Increased number of B cells	4 (99.9%)
2	Decreased specific antibody response to polysaccharide vaccine	2 (99.9%)
3	Decreased IgA levels	1 (99.9%)
4	Lymphoid hyperplasia	1 (99.9%)
5	Recurrent infections	1 (99.9%)
6	Splenomegaly	1 (99.9%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

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