Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.Q289*
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CARD9

NM_052813.5:p.Q289*

Associated Papers

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

Shi L et al.

Mycopathologia, 2026

CARD9 Mutations in Patients with Invasive Fungal Infections.

Guner Ozenen G et al.

Mycopathologia, 2025

Genetic, immunological and clinical assessment of isolated chronic recalcitrant dermatophytosis: a prospective study.

Galili E et al.

The British Journal of Dermatology, 2025

Photodynamic Therapy as an Adjunct Treatment in a Patient With Deep Dermatophytosis and Inherited CARD9 Deficiency.

Gómez-Moyano E et al.

Photodermatology, Photoimmunology & Photomedicine, 2025

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

Wu J et al.

Bmc Infectious Diseases, 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

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

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

Heterozygous CARD9 mutation favors the development of allergic bronchopulmonary aspergillosis.

Xu X et al.

Chinese Medical Journal, 2023

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

Zhang Y et al.

Nature Communications, 2023

Pearls & Oy-sters: Spinal Cord Candidiasis Linked to CARD9 Deficiency Masquerading as a Longitudinally Extensive Transverse Myelitis.

Jeantin L et al.

Neurology, 2022

CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.

Goel S et al.

Journal of Clinical Immunology, 2022

Case report: Severe deep ulcer on the left abdomen mimicking mycosis fungoides caused by Trichophyton tonsurans in a patient with novel CARD9 mutation.

Tan J et al.

Frontiers in Immunology, 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

Primary Cutaneous Aspergillosis in a Patient with CARD9 Deficiency and Aspergillus Susceptibility of Card9 Knockout Mice.

Zhang Y et al.

Journal of Clinical Immunology, 2021

Pseudoxanthoma elasticum-like syndrome with coagulation deficiency associated with carotid artery hypoplasia and a novel gamma-glutamyl carboxylase gene mutation.

Guillen-Climent S et al.

International Journal of Dermatology, 2021

A new case of deep dermatophytic disease with inherited CARD9 deficiency.

Benmehidi N et al.

International Journal of Dermatology, 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

Invasive Saprochaete capitata Infection in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature.

Erman B et al.

Journal of Clinical Immunology, 2020

Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections.

Perez L et al.

Journal of Clinical Immunology, 2020

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

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

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

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

Dermatophytic disease with deficit in CARD9: A new case with a brain impairment.

Boudghene Stambouli O et al.

Journal De Mycologie Medicale, 2017

Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.

Barbouche MR et al.

Frontiers in Immunology, 2017

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

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

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 CARD9-inactivating mutation].

Dereure O

Annales De Dermatologie Et De Venereologie, 2014

Deep dermatophytosis and inherited CARD9 deficiency.

Lanternier F et al.

The New England Journal of Medicine, 2013

Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects.

Engelhardt KR et al.

The Journal of Allergy and Clinical Immunology, 2012

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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