Varaico: Literature-Extracted Genetic Variants

Gene:CARD9
Variant:p.S12N
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CARD9

NM_052813.5:p.S12N

Associated Papers

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

Shi L et al.

Mycopathologia, 2026

Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?

Modi R et al.

Current Gastroenterology Reports, 2025

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

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

CARD9 in the pathogenesis of axial spondyloarthritis.

Seufert AL et al.

Best Practice & Research. Clinical Rheumatology, 2024

Translational genetics identifies a phosphorylation switch in CARD9 required for innate inflammatory responses.

Brandt M et al.

Cell Reports, 2024

Chimeric and mutant CARD9 constructs enable analyses of conserved and diverged autoinhibition mechanisms in the CARD-CC protein family.

Staal J et al.

The Febs Journal, 2024

Card9/neutrophil signalling axis promotes IL-17A-mediated ankylosing spondylitis.

Rosenzweig HL et al.

Annals of the Rheumatic Diseases, 2024

Disseminated Combined Talaromyces marneffei and Enterococcus faecium Bloodstream Infection Presenting as Gastrointestinal Perforation in a Patient with CARD9 Gene Mutation.

Liang H et al.

Infection and Drug Resistance, 2024

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

Heterozygous CARD9 mutation favors the development of allergic bronchopulmonary aspergillosis.

Xu X et al.

Chinese Medical Journal, 2023

The role of the CBM complex in allergic inflammation and disease.

DeVore SB et al.

The Journal of Allergy and Clinical Immunology, 2022

Genetic insight into primary glomerulonephritis.

Wu MY et al.

Nephrology (carlton, Vic.), 2022

Understanding the genetic basis of immune responses to fungal infection.

Gonçalves SM et al.

Expert Review of Anti-infective Therapy, 2022

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

Goel S et al.

Journal of Clinical Immunology, 2022

The role and mechanism of CARD9 gene polymorphism in diseases.

Ji C et al.

Biomedical Journal, 2021

Genetic Investigation of Inverse Psoriasis.

Göblös A et al.

Life (basel, Switzerland), 2021

34357026 (PubMed )
Supplement: life-11-00654-s001.zip › life-1257310-SI.pdf

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

Mahmoudi E et al.

Gut Pathogens, 2021

GWAS-Based Discoveries in IgA Nephropathy, Membranous Nephropathy, and Steroid-Sensitive Nephrotic Syndrome.

Sanchez-Rodriguez E et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2021

Association of a CARD9 Gene Haplotype with Behcet's Disease in a Chinese Han Population.

Li F et al.

Ocular Immunology and Inflammation, 2021

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.

Vujkovic M et al.

Nature Genetics, 2020

32541925 (PubMed )
Supplement: NIHMS1589535-supplement-1589535_Supp_Tab1-26.xlsx › T14

Pathway paradigms revealed from the genetics of inflammatory bowel disease.

Graham DB et al.

Nature, 2020

The multifaceted role of CARD9 in inflammatory bowel disease.

Luo P et al.

Journal of Cellular and Molecular Medicine, 2020

A CARD9 single-nucleotide polymorphism rs4077515 is associated with reduced susceptibility to and severity of primary immune thrombocytopenia.

Sheng Z et al.

Annals of Hematology, 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

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM9_ESM.xlsx › SD5_-_DUAL-FLUO

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Flannick J et al.

Nature, 2019

31118516 (PubMed )
Supplement: 41586_2019_1231_MOESM1_ESM.pdf

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

30683156 (PubMed )
Supplement: 13054_2019_2313_MOESM2_ESM.xls › Sheet1

Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

Moon CM et al.

Inflammatory Bowel Diseases, 2018

29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf

CARD9S12N facilitates the production of IL-5 by alveolar macrophages for the induction of type 2 immune responses.

Xu X et al.

Nature Immunology, 2018

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Molecular and physiological roles of the adaptor protein CARD9 in immunity.

Zhong X et al.

Cell Death & Disease, 2018

Human CARD9: A Critical Molecule of Fungal Immune Surveillance.

Drummond RA et al.

Frontiers in Immunology, 2018

Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Huang H et al.

Nature, 2017

Genetics of inflammatory bowel disease: beyond NOD2.

Mirkov MU et al.

The Lancet. Gastroenterology & Hepatology, 2017

The genetic background of inflammatory bowel disease: from correlation to causality.

Uniken Venema WT et al.

The Journal of Pathology, 2017

Protective alleles and modifier variants in human health and disease.

Harper AR et al.

Nature Reviews. Genetics, 2015

Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation.

Cao Z et al.

Immunity, 2015

Host genetics and opportunistic fungal infections.

Pana ZD et al.

Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases, 2014

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Kiryluk K et al.

Nature Genetics, 2014

Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasis.

Rosentul DC et al.

Frontiers in Microbiology, 2014

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K et al.

Gut, 2013

22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf

Human genetic susceptibility to Candida infections.

Plantinga TS et al.

Medical Mycology, 2012

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Rivas MA et al.

Nature Genetics, 2011

Genetic variation in the dectin-1/CARD9 recognition pathway and susceptibility to candidemia.

Rosentul DC et al.

The Journal of Infectious Diseases, 2011

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

Anderson CA et al.

Nature Genetics, 2011

21297633 (PubMed )
Supplement: NIHMS265993-supplement-1.pdf

Variation in genes of β-glucan recognition pathway and susceptibility to opportunistic infections in HIV-positive patients.

Rosentul DC et al.

Immunological Investigations, 2011

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