Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.R101L
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CARD9

NM_052813.5:p.R101L

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

Translational genetics identifies a phosphorylation switch in CARD9 required for innate inflammatory responses.

Brandt M et al.

Cell Reports, 2024

CARD9 mutations in patients with fungal infections: An update from the last 5 years.

Dantas MDS et al.

Mycoses, 2024

Deep dermatophytosis caused by Trichophyton rubrum in an elderly patient with CARD9 deficiency: A case report and literature review.

Ansai O et al.

The Journal of Dermatology, 2024

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

Successful Allogenic Stem Cell Transplantation in Patients with Inherited CARD9 Deficiency.

Queiroz-Telles F et al.

Journal of Clinical Immunology, 2019

Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient.

Arango-Franco CA et al.

Journal of Clinical Immunology, 2018

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

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

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

Yan XX et al.

The British Journal of Dermatology, 2016

Mechanistic Insights into the Role of C-Type Lectin Receptor/CARD9 Signaling in Human Antifungal Immunity.

Drummond RA et al.

Frontiers in Cellular and Infection Microbiology, 2016

A homozygous CARD9 mutation in a Brazilian patient with deep dermatophytosis.

Grumach AS et al.

Journal of Clinical Immunology, 2015

The CARD9 Polymorphisms rs4077515, rs10870077 and rs10781499 Are Uncoupled from Susceptibility to and Severity of Pulmonary Tuberculosis.

Streata I et al.

Plos One, 0

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