Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.C150*
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CARD11

NM_032415.7:p.C150*

Associated Papers

Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11.

Nguyen A et al.

Journal of Clinical Immunology, 2023

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

DeVore SB 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

Reversion Mosaicism in Primary Immunodeficiency Diseases.

Miyazawa H et al.

Frontiers in Immunology, 2021

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

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

Fuchs S et al.

Blood, 2015

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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."