Varaico: Literature-Extracted Genetic Variants

Gene:CARD11
Variant:p.E57K
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CARD11

NM_032415.7:p.E57K

Associated Papers

CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis.

Baronio M et al.

Immunobiology, 2023

Multiplexed Functional Assessment of Genetic Variants in CARD11.

Meitlis I et al.

American Journal of Human Genetics, 2020

33202260 (PubMed )
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Prurigo-like atopic dermatitis in a child with CARD11-associated severe combined immunodeficiency successfully treated with dupilumab.

Gualdi G et al.

Pediatric Dermatology, 0

Improvement in Atopic Dermatitis and Recurrent Infection With Dupilumab in Children With Distinct Genetic Types of Hyper-IgE Syndrome: A Case Series and Literature Review.

Dick JK et al.

Pediatric Dermatology, 0

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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."