Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.R35Q
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CARD9

NM_052813.5:p.R35Q

Associated Papers

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

Shi L et al.

Mycopathologia, 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

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

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

Zhang L et al.

Mycoses, 2023

A nucleation barrier spring-loads the CBM signalosome for binary activation.

Rodriguez Gama A et al.

Elife, 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

CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature.

Wang X et al.

Mycopathologia, 2020

Structures of autoinhibited and polymerized forms of CARD9 reveal mechanisms of CARD9 and CARD11 activation.

Holliday MJ et al.

Nature Communications, 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

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

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

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

[A case of salt-deficiency cramp].

HENSCHEN-NYMAN O

Svenska Lakartidningen, 1959

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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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."