Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.K215del1
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CARD11

NM_032415.7:p.K215del1

Associated Papers

BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review.

Baldini L et al.

Immunology Letters, 2025

Successful Treatment with Sirolimus of a Patient with a Novel CARD11 Germline Mutation in B-Cell Expansion with Nuclear Factor Kappa B and T-Cell Anergy: Case Report and Literature Review.

Nishinosono T et al.

Journal of Clinical Immunology, 2025

39998705 (PubMed )
Supplement: 10875_2025_1872_MOESM1_ESM.docx

A familial case of B-cell expansion with NF-κB and T-cell anergy caused by a G123D heterozygous missense mutation in the CARD11 gene.

Takase Y et al.

Pediatric Blood & Cancer, 2022

Hyper-IgE and Carcinoma in CADINS Disease.

Pietzsch L et al.

Frontiers in Immunology, 2022

A novel CARD11 germline mutation in a Chinese patient of B cell expansion with NF-κB and T cell anergy (BENTA) and literature review.

Zhao P et al.

Frontiers in Immunology, 2022

Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.

Massoth LR et al.

The Oncologist, 2021

33904632 (PubMed )
Supplement: ONCO-26-e1263-s001.xlsx › Variants

Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy.

Zhao P et al.

Frontiers in Immunology, 2021

A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-κB and T Cell Anergy Disease.

Shields AM et al.

Journal of Clinical Immunology, 2020

Molecular Genetics in the Diagnosis and Biology of Lymphoid Neoplasms.

Lim MS et al.

American Journal of Clinical Pathology, 2019

The three CARMA sisters: so different, so similar: a portrait of the three CARMA proteins and their involvement in human disorders.

Scudiero I et al.

Journal of Cellular Physiology, 2014

Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.

Fabbri G et al.

The Journal of Experimental Medicine, 2013

24127483 (PubMed )
Supplement: supp_jem.20131448_JEM_20131448_TableS2.xlsx › TableS2
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