Associated Papers
Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.
Marti S et al.
Hemasphere, 2025
A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever.
Zhao P et al.
Scientific Reports, 2024
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
Mechanistic impact of oligomer poisoning by dominant-negative CARD11 variants.
Bedsaul JR et al.
Iscience, 2022
Efficacy of dupilumab for controlling severe atopic dermatitis with dominant-negative CARD11 variant.
Charvet E et al.
Clinical and Experimental Dermatology, 2021
Multiplexed Functional Assessment of Genetic Variants in CARD11.
Meitlis I et al.
American Journal of Human Genetics, 2020
33202260 (PubMed )
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