Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.Q295*
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CARD9

NM_052813.5:p.Q295*

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

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

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

Erman B et al.

Journal of Clinical Immunology, 2024

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 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

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

The Role of CARD9 Deficiency in Neutrophils.

Sheng R et al.

Mediators of Inflammation, 2021

Clinical and Immunological Features of Human BCL10 Deficiency.

Garcia-Solis B 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

Pathway paradigms revealed from the genetics of inflammatory bowel disease.

Graham DB et al.

Nature, 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

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

Queiroz-Telles F 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

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

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

Cetinkaya PG et al.

Clinical Immunology (orlando, Fla.), 2018

Candidiasis of the Central Nervous System in Neonates and Children with Primary Immunodeficiencies.

Drummond RA et al.

Current Fungal Infection Reports, 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

Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.

Okada S et al.

Clinical & Translational Immunology, 2016

Extrapulmonary Aspergillus infection in patients with CARD9 deficiency.

Rieber N et al.

Jci Insight, 2016

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

Successful Granulocyte Colony-stimulating Factor Treatment of Relapsing Candida albicans Meningoencephalitis Caused by CARD9 Deficiency.

Celmeli F et al.

The Pediatric Infectious Disease Journal, 2016

Polymorphisms of the immune-modulating receptor dectin-1 in pigs: their functional influence and distribution in pig populations.

Shinkai H et al.

Immunogenetics, 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

Chronic Candida albicans Meningitis in a 4-Year-Old Girl with a Homozygous Mutation in the CARD9 Gene (Q295X).

Herbst M et al.

The Pediatric Infectious Disease Journal, 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

CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy.

Gavino C et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2014

CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies.

Wang X et al.

The Journal of Allergy and Clinical Immunology, 2014

Deep dermatophytosis and inherited CARD9 deficiency.

Lanternier F et al.

The New England Journal of Medicine, 2013

Genetic susceptibility to Candida infections.

Smeekens SP et al.

Embo Molecular Medicine, 2013

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