U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

BENTA disease(BENTA)

MedGen UID:
1641265
Concept ID:
C4551967
Disease or Syndrome
Synonym: B-cell expansion with NFKB and T-cell anergy
SNOMED CT: BENTA disease (1179300002); B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease (1179300002); BENTA (B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy) disease (1179300002); B-cell expansion with NF-kB and T-cell anergy disease (1179300002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): CARD11 (7p22.2)
 
Monarch Initiative: MONDO:0014645
OMIM®: 616452
Orphanet: ORPHA464336

Definition

B-cell expansion with NFKB and T-cell anergy 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]

Clinical features

From HPO
Lymphoid hyperplasia
MedGen UID:
90735
Concept ID:
C0333997
Disease or Syndrome
An abnormal bone marrow finding characterized by many poorly circumscribed and occasionally confluent lymphoid nodules. The nodules contain small and uniform lymphocytes with rounded nuclei, clumped chromatin, and without prominent nucleoli.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Decreased circulating IgA concentration
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Increased B cell count
MedGen UID:
349067
Concept ID:
C1858972
Finding
An abnormal increase from the normal count of B cells.
Decreased specific antibody response to polysaccharide vaccine
MedGen UID:
1708273
Concept ID:
C5139462
Finding
A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBENTA disease

Professional guidelines

PubMed

Grama A, Mititelu A, Sîrbe C, Benţa G, Pop TL
Front Immunol 2023;14:1206025. Epub 2023 Oct 20 doi: 10.3389/fimmu.2023.1206025. PMID: 37928553Free PMC Article
Stein DJ, Harris MG, Vigo DV, Tat Chiu W, Sampson N, Alonso J, Altwaijri Y, Bunting B, Caldas-de-Almeida JM, Cía A, Ciutan M, Degenhardt L, Gureje O, Karam A, Karam EG, Lee S, Medina-Mora ME, Mneimneh Z, Navarro-Mateu F, Posada-Villa J, Rapsey C, Torres Y, Carmen Viana M, Ziv Y, Kessler RC; WHO World Mental Health Survey Collaborators
Depress Anxiety 2020 Oct;37(10):972-994. Epub 2020 Jul 15 doi: 10.1002/da.23076. PMID: 32667096Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...