Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.E134G
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CARD11

NM_032415.7:p.E134G

Associated Papers

B-cell lymphocytosis and reprogramming due to biallelic CARD11 mutations.

Bhattad S et al.

The Journal of Allergy and Clinical Immunology, 2025

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

From syndromic clues to diagnosis: understanding CARD11-driven disorders.

García-Martínez E et al.

Frontiers in Immunology, 2025

CARD11 regulates the thymic Treg development in an NF-κB-independent manner.

Hu Y et al.

Frontiers in Immunology, 2024

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease.

Bauman BM et al.

Clinical Immunology (orlando, Fla.), 2023

CARD11 gain-of-function mutation drives cell-autonomous accumulation of PD-1+ ICOShigh activated T cells, T-follicular, T-regulatory and T-follicular regulatory cells.

Masle-Farquhar E et al.

Frontiers in Immunology, 2023

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

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

Multiplexed Functional Assessment of Genetic Variants in CARD11.

Meitlis I et al.

American Journal of Human Genetics, 2020

Gain-of-function mutations in CARD11 promote enhanced aggregation and idiosyncratic signalosome assembly.

Stinson JR et al.

Cellular Immunology, 2020

Somatic Hemizygous Y371H CBL Mutation with Loss of Heterozygosity Presenting with BENTA Type Lymphoid Proliferation.

Tejwani N et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2020

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

Pathogenic CARD11 mutations affect B cell development and differentiation through a noncanonical pathway.

Wei Z et al.

Science Immunology, 2019

The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.

Lu HY et al.

Frontiers in Immunology, 2018

Mechanisms of Regulated and Dysregulated CARD11 Signaling in Adaptive Immunity and Disease.

Bedsaul JR et al.

Frontiers in Immunology, 2018

A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family.

Desjardins M et al.

Frontiers in Immunology, 2018

Germline hypomorphic CARD11 mutations in severe atopic disease.

Ma CA et al.

Nature Genetics, 2017

Monogenic immune disorders and severe atopic disease.

Biggs CM et al.

Nature Genetics, 2017

Intrinsic Plasma Cell Differentiation Defects in B Cell Expansion with NF-κB and T Cell Anergy Patient B Cells.

Arjunaraja S et al.

Frontiers in Immunology, 2017

Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation.

Buchbinder D et al.

The Journal of Allergy and Clinical Immunology, 2015

Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis.

Brohl AS et al.

Journal of Clinical Immunology, 2015

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