Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.R101C
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CARD9

NM_052813.5:p.R101C

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

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

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

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

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

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

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

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

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

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