Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.R30W
Back to variants list

CARD11

NM_032415.7:p.R30W

Associated Papers

A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever.

Zhao P et al.

Scientific Reports, 2024

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

Hu Y et al.

Frontiers in Immunology, 2024

Elevated IgE from attenuated CARD11 signaling: lessons from atopic mice and humans.

Pomerantz JL et al.

Current Opinion in Immunology, 2022

The role of the CBM complex in allergic inflammation and disease.

DeVore SB et al.

The Journal of Allergy and Clinical Immunology, 2022

Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.

Barmettler S et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2022

Mechanistic impact of oligomer poisoning by dominant-negative CARD11 variants.

Bedsaul JR et al.

Iscience, 2022

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.

Baxter SK et al.

The Journal of Allergy and Clinical Immunology, 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

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

Pathway-Specific Defects in T, B, and NK Cells and Age-Dependent Development of High IgE in Mice Heterozygous for a CADINS-Associated Dominant Negative CARD11 Allele.

Hutcherson SM et al.

Journal of Immunology (baltimore, Md. : 1950), 2021

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

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.

Dorjbal B et al.

The Journal of Allergy and Clinical Immunology, 2019

Analysis of CARD10 and CARD11 somatic mutations in patients with ovarian endometriosis.

Zou Y et al.

Oncology Letters, 2018

Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).

Dadi H et al.

The Journal of Allergy and Clinical 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."