Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.G123S
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CARD11

NM_032415.7:p.G123S

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

Mutational profile dynamics in follicular lymphoma and large cell transformation.

Hesius EAM et al.

Journal of Clinical Pathology, 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

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

Multisite clinical cross-validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication.

Sabatini PJB et al.

Journal of Clinical Pathology, 2025

38182402 (PubMed )
Supplement: jcp-78-3-s002.xlsx › Supplementary_Table_2

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

García-Martínez E et al.

Frontiers in Immunology, 2025

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

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

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

Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Frauenfeld L et al.

Blood Advances, 2022

34654055 (PubMed )
Supplement: advancesADV2021006034-suppl1.pdf

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

Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience.

Urdinez L 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

Targeted Deep Sequencing of Mycosis Fungoides Reveals Intracellular Signaling Pathways Associated with Aggressiveness and Large Cell Transformation.

Wobser M et al.

Cancers, 2021

34771672 (PubMed )
Supplement: cancers-13-05512-s001.zip › cancers-1392442-supplementary.xlsx › Supplementary_Table_S3

Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets.

Rodrigues JM et al.

Leukemia & Lymphoma, 2021

34080947 (PubMed )
Supplement: supplement_1.xlsx › Table_S6._Predicted_drivers

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

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

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

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

Wei Z et al.

Science Immunology, 2019

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

Dominant negative CARD11 mutations: Beyond atopy.

Béziat V et al.

The Journal of Allergy and Clinical Immunology, 2019

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

Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Bouska A et al.

Leukemia, 2017

27389057 (PubMed )
Supplement: NIHMS790817-supplement-6.xlsx › Sheet1

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

Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations.

Wu C et al.

Oncotarget, 2016

Genetic and epigenetic aberrations occurring in colorectal tumors associated with serrated pathway.

Sakai E et al.

International Journal of Cancer, 2016

26510091 (PubMed )
Supplement: IJC-138-1634-s001.pdf

Constant B cell lymphocytosis since early age in a patient with CARD11 mutation: A 20-year follow-up.

Outinen T et al.

Clinical Immunology (orlando, Fla.), 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

Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas.

Jiang Y et al.

Genome Biology, 2014

25123191 (PubMed )
Supplement: 13059_2014_432_MOESM4_ESM.xlsx › Patient_1

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

Human lymphoma mutations reveal CARD11 as the switch between self-antigen-induced B cell death or proliferation and autoantibody production.

Jeelall YS et al.

The Journal of Experimental Medicine, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."