Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.R18W
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CARD9

NM_052813.5:p.R18W

Associated Papers

CARD9 Mutations in Patients with Fungal Infections: A Comprehensive Literature Review.

Shi L et al.

Mycopathologia, 2026

Clinical features of patients with fungal infections caused by CARD9 deficiency: a literature review of case reports.

Tang C et al.

Frontiers in Cellular and Infection Microbiology, 2025

Inherited CARD9 Deficiency Due to a Founder Effect in East Asia.

Tomomasa D et al.

Journal of Clinical Immunology, 2024

Increased susceptibility to Mycobacterium avium complex infection in miniature Schnauzer dogs caused by a codon deletion in CARD9.

Mizukami K et al.

Scientific Reports, 2024

Concurrent infection of Exophiala dermatitidis and Angiostrongylus cantonensis in central nervous system of a child with inherited CARD9 deficiency: A case report and literature review.

Ma N et al.

Journal De Mycologie Medicale, 2024

Genetic inhibition of CARD9 accelerates the development of atherosclerosis in mice through CD36 dependent-defective autophagy.

Zhang Y et al.

Nature Communications, 2023

A nucleation barrier spring-loads the CBM signalosome for binary activation.

Rodriguez Gama A et al.

Elife, 2022

Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature.

Paccoud O et al.

Journal of Fungi (basel, Switzerland), 2022

The role and mechanism of CARD9 gene polymorphism in diseases.

Ji C et al.

Biomedical Journal, 2021

Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.

Imanaka Y et al.

Journal of Clinical Immunology, 2021

CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature.

Wang X et al.

Mycopathologia, 2020

Recurrent fungal infections in a Chinese patient with CARD9 deficiency and a review of 48 cases.

Quan C et al.

The British Journal of Dermatology, 2019

Cerebral Phaeohyphomycosis Caused by Exophiala dermatitidis in a Chinese CARD9-Deficient Patient: A Case Report and Literature Review.

Wang C et al.

Frontiers in Neurology, 2019

Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults.

Corvilain E et al.

Journal of Clinical Immunology, 2018

Prototheca zopfii Colitis in Inherited CARD9 Deficiency.

Sari S et al.

The Journal of Infectious Diseases, 2018

A young girl with severe cerebral fungal infection due to card 9 deficiency.

Cetinkaya PG et al.

Clinical Immunology (orlando, Fla.), 2018

Molecular and physiological roles of the adaptor protein CARD9 in immunity.

Zhong X et al.

Cell Death & Disease, 2018

Novel bi-allelic splice mutations in CARD9 causing adult-onset Candida endophthalmitis.

Gavino C et al.

Mycoses, 2018

Frequency and Geographic Distribution of CARD9 Mutations in Patients With Severe Fungal Infections.

Vaezi A et al.

Frontiers in Microbiology, 2018

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.

Soler-Palacín P et al.

Frontiers in Immunology, 2018

CARD9 mutation linked to Corynespora cassiicola infection in a Chinese patient.

Yan XX et al.

The British Journal of Dermatology, 2016

Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both.

Lanternier F et al.

The Journal of Allergy and Clinical Immunology, 2015

Inherited CARD9 deficiency in 2 unrelated patients with invasive Exophiala infection.

Lanternier F et al.

The Journal of Infectious Diseases, 2015

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