Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.G123D
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CARD11

NM_032415.7:p.G123D

Associated Papers

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Variant_Calls

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

Baldini L et al.

Immunology Letters, 2025

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S4

Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.

Geng H et al.

Blood Advances, 2025

39536287 (PubMed )
Supplement: BLOODA_ADV-2024-014460-mmc1.pdf

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

Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.

Özoğul E et al.

Blood Cancer Journal, 2024

39313500 (PubMed )
Supplement: 41408_2024_1146_MOESM2_ESM.xlsx › S10

Identification of genetic subtypes in follicular lymphoma.

Shelton V et al.

Blood Cancer Journal, 2024

39112453 (PubMed )
Supplement: 41408_2024_1111_MOESM2_ESM.xlsx › ST5_-_mutations

Chimeric and mutant CARD9 constructs enable analyses of conserved and diverged autoinhibition mechanisms in the CARD-CC protein family.

Staal J et al.

The Febs Journal, 2024

Monogenic inborn errors of immunity in autoimmune disorders.

Venkatachari IV et al.

Immunologic Research, 2023

Manifestations of B-cell expansion with NF-κB and T-cell anergy disease overlapping with hemophagocytic lymphohistiocytosis.

Xiao H et al.

Scandinavian Journal of 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

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

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

Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Guan T et al.

Frontiers in Oncology, 2022

36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_4

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Avramović V et al.

Human Genomics, 2021

34906245 (PubMed )
Supplement: 40246_2021_371_MOESM1_ESM.xlsx › S5

Clonal evolution in diffuse large B-cell lymphoma with central nervous system recurrence.

Magnes T et al.

Esmo Open, 2021

33399078 (PubMed )
Supplement: mmc1.pdf

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

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

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

Clinical, Immunological, and Molecular Findings in Four Cases of B Cell Expansion With NF-κB and T Cell Anergy Disease for the First Time From India.

Gupta M et al.

Frontiers in Immunology, 2018

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

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

Molecular Determinants of Scaffold-induced Linear Ubiquitinylation of B Cell Lymphoma/Leukemia 10 (Bcl10) during T Cell Receptor and Oncogenic Caspase Recruitment Domain-containing Protein 11 (CARD11) Signaling.

Yang YK et al.

The Journal of Biological Chemistry, 2016

Intramolecular Interactions and Regulation of Cofactor Binding by the Four Repressive Elements in the Caspase Recruitment Domain-containing Protein 11 (CARD11) Inhibitory Domain.

Jattani RP et al.

The Journal of Biological Chemistry, 2016

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

A quantitative signaling screen identifies CARD11 mutations in the CARD and LATCH domains that induce Bcl10 ubiquitination and human lymphoma cell survival.

Chan W et al.

Molecular and Cellular Biology, 2013

Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Morin RD et al.

Nature, 2011

21796119 (PubMed )
Supplement: NIHMS313098-supplement-6.xls › table_1_validation_with_RNA_seq
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