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Features include always present findings: Increased circulating IgE concentration and Onychomycosis; and very common findings: Severely increased total eosinophil count. 16 total HPO annotations.
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 12:25 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 2 | Abnormality of blood and blood-forming tissues, Immunodeficiency |
Brain and nerves | 1 | Meningitis |
Lab test results | 1 | Increased circulating IgE concentration |
Skin | 1 | Deep dermatophytosis |
CARD9 encodes caspase recruitment domain family member 9 (536 aa). Adapter protein that plays a key role in innate immune response against fungi by forming signaling complexes downstream of C-type lectin receptors. Highest expression in Spleen (19.6 TPM) and Lung (8.3 TPM).
Predisposition to invasive fungal disease due to CARD9 deficiency is associated with mutations in the CARD9 gene on chromosome 9.
The CARD9 protein participates in CARD9 oligomerizes, BCL10 oligomerizes, and PLCG2 translocates from cytosol to plasma membrane pathways.
CARD9 is classified as a druggable target (Kinase category) with score 7.0.
Genetic testing for CARD9 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for predisposition to invasive fungal disease due to CARD9 deficiency has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 1 very common feature, 3 common features.
No clinical trials have been registered for predisposition to invasive fungal disease due to CARD9 deficiency.
18 publications have been identified in PubMed for predisposition to invasive fungal disease due to CARD9 deficiency. Research spans Case Report / Case Series (39%), Basic Science / Preclinical (33%), and Clinical Trial Publication (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 39% |
Laboratory research | 6 | 33% |
Clinical study results | 2 | 11% |
Disease patterns and progression | 2 | 11% |
Testing and diagnosis research | 1 | 6% |
Shigemura T (2026). [PMID: 42068233](https://pubmed.ncbi.nlm.nih.gov/42068233/). *Clin Exp Immunol*. [Case Report / Case Series]
Yu X (2026). [PMID: 41556658](https://pubmed.ncbi.nlm.nih.gov/41556658/). *mSphere*. [Basic Science / Preclinical]
Gómez Cherey JF (2026). [PMID: 41444070](https://pubmed.ncbi.nlm.nih.gov/41444070/). *Rev Argent Microbiol*. [Epidemiology / Natural History]
Thompson GR 3rd (2025). [PMID: 39632568](https://pubmed.ncbi.nlm.nih.gov/39632568/). *Future Microbiol*. [Clinical Trial Publication]
Reyhanoglu G (2025). [PMID: 40951041](https://pubmed.ncbi.nlm.nih.gov/40951041/). *Cureus*. [Case Report / Case Series]
Shi Y (2025). [PMID: 40526468](https://pubmed.ncbi.nlm.nih.gov/40526468/). *Cell Rep*. [Basic Science / Preclinical]
Park S (2025). [PMID: 39826382](https://pubmed.ncbi.nlm.nih.gov/39826382/). *J Infect Public Health*. [Diagnostic / Biomarker]
Nabeela S (2025). [PMID: 40586608](https://pubmed.ncbi.nlm.nih.gov/40586608/). *mBio*. [Basic Science / Preclinical]
Humbert L (2025). [PMID: 38605470](https://pubmed.ncbi.nlm.nih.gov/38605470/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Mohammed MJ (2024). [PMID: 39071038](https://pubmed.ncbi.nlm.nih.gov/39071038/). *Int J Microbiol*. [Basic Science / Preclinical]