Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.R373P
Back to variants list

CARD9

NM_052813.5:p.R373P

Associated Papers

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

Shi L et al.

Mycopathologia, 2026

Inherited CARD9 deficiency in a patient with both subcutaneous mucormycosis and hepatic candidiasis.

Zhang L et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2026

Phialophora americana infection in a patient with a compound heterozygous CARD9 mutation.

Wu J et al.

Bmc Infectious Diseases, 2025

40289075 (PubMed )
Supplement: 12879_2025_10973_MOESM3_ESM.pdf

Human inborn errors of immunity underlying Talaromyces marneffei infections: a multicenter, retrospective cohort study.

Fan H et al.

Frontiers in Immunology, 2025

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

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

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

Challenges towards management of CARD9-deficient patients with phaeohyphomycosis: A case report and case series study.

Zhang L et al.

Mycoses, 2023

Talaromyces marneffei Infections in 8 Chinese Children with Inborn Errors of Immunity.

Wang L et al.

Mycopathologia, 2022

Primary Cutaneous Mucormycosis, Candida Onychomycosis and Endophthalmitis in a Patient with CARD9 Mutation.

Zhang L et al.

Mycopathologia, 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

Pulmonary Cladosporium infection coexisting with subcutaneous Corynespora cassiicola infection in a patient: A case report.

Wang WY et al.

World Journal of Clinical Cases, 2022

Rapid diagnosis of Talaromyces marneffei infection by metagenomic next-generation sequencing technology in a Chinese cohort of inborn errors of immunity.

Liu L et al.

Frontiers in Cellular and Infection Microbiology, 2022

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

Frede N et al.

Journal of Clinical Immunology, 2021

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

The role of mycobiota-genotype association in inflammatory bowel diseases: a narrative review.

Mahmoudi E et al.

Gut Pathogens, 2021

The Role of CARD9 Deficiency in Neutrophils.

Sheng R et al.

Mediators of Inflammation, 2021

Case Report: Talaromyces marneffei Infection in a Chinese Child With a Complex Heterozygous CARD9 Mutation.

Ba H et al.

Frontiers in 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

[Application value of whole exome sequencing in critically ill neonates with inherited diseases].

Chen YL et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020

Deep dermatophytosis caused by Microsporum ferrugineum in a patient with CARD9 mutations.

Zhang Y et al.

The British Journal of Dermatology, 2019

The Phytopathogenic Fungus Pallidocercospora crystallina-Caused Localized Subcutaneous Phaeohyphomycosis in a Patient with a Homozygous Missense CARD9 Mutation.

Guo Y et al.

Journal of Clinical Immunology, 2019

CARD9 variants in Chinese patients with sporotrichosis.

Bao F et al.

The 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

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

A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation.

De Bruyne M et al.

Frontiers in Immunology, 2018

Impaired RASGRF1/ERK-mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians.

Gavino C et al.

The Journal of Allergy and Clinical Immunology, 2016

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

Yan XX et al.

The British Journal of Dermatology, 2016

Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.

Pérez de Diego R et al.

The Journal of Allergy and Clinical Immunology, 2015

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

Deep dermatophytosis and inherited CARD9 deficiency.

Lanternier F et al.

The New England Journal of Medicine, 2013

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.

Drewniak A et al.

Blood, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."