Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.R47H
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CARD11

NM_032415.7:p.R47H

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

A novel variant in caspase recruitment domain family member 11 highlights the variability of clinical manifestations and management in a three generation family.

Cros G et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients.

Ollech A et al.

Frontiers in Pediatrics, 2023

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 )
Supplement: mmc7.xlsx › dmso___LOF_screen__

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

Non-parametric Heat Map Representation of Flow Cytometry Data: Identifying Cellular Changes Associated With Genetic Immunodeficiency Disorders.

Ellyard JI et al.

Frontiers in Immunology, 2019

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

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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."