Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.E57D
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CARD11

NM_032415.7:p.E57D

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

Epidermodysplasia Verruciformis in CADINS Disease: Expanding the Phenotype.

Aggarwal R et al.

Journal of Clinical Immunology, 2024

Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11).

Hu W et al.

Journal of Clinical Immunology, 2023

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

Bedsaul JR et al.

Iscience, 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

Multiplexed Functional Assessment of Genetic Variants in CARD11.

Meitlis I et al.

American Journal of Human Genetics, 2020

33202260 (PubMed )
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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

2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical 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

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

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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."