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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.
Autosomal dominant inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Splenomegaly
MedGen UID:
52469
•Concept ID:
C0038002
•
Finding
Abnormal increased size of the spleen.
See: Feature record | Search on this feature
Decreased circulating IgA level
MedGen UID:
57934
•Concept ID:
C0162538
•
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
See: Feature record | Search on this feature
Decreased circulating total IgM
MedGen UID:
116095
•Concept ID:
C0239989
•
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
See: Feature record | Search on this feature
Recurrent infections
MedGen UID:
65998
•Concept ID:
C0239998
•
Finding
Increased susceptibility to infections.
See: Feature record | Search on this feature
Increased B cell count
MedGen UID:
349067
•Concept ID:
C1858972
•
Finding
An abnormal increase from the normal count of B cells.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Term Hierarchy

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

Professional guidelines

PubMed

Immune-mediated cholangiopathies in children: the need to better understand the pathophysiology for finding the future possible treatment targets.
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
Perceived helpfulness of treatment for posttraumatic stress disorder: Findings from the World Mental Health Surveys.
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.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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