Genetic causes of chronic mucocutaneous candidiasis linked to IL-17 immunity
Genome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasis
This project looks for inherited gene changes that weaken IL-17 immune responses and cause chronic Candida infections of the skin, nails, and mucous membranes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Rockefeller University NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11326181 on NIH RePORTER |
What this research studies
As someone with CMC, I would know researchers will sequence patients' genomes and search across the whole genome for mutations that change IL-17 signaling. They will pay special attention to known genes such as STAT1, STAT3, IL17RA, IL17RC, and ACT1 while also searching for new genes that explain unexplained cases. The team will use blood and immune cells from patients to test how suspect mutations affect STAT1/STAT3 activity and the production of IL-17 by T cells. Participation may involve providing blood or other samples and occasional visits or shipping samples to the center for laboratory testing.
Who could benefit from this research
Good fit: Ideal candidates are people with recurrent or early-onset mucocutaneous Candida infections, especially with a family history or other signs of immune dysfunction such as APECED.
Not a fit: People with single, mild, or clearly non-genetic Candida infections or conditions unrelated to IL-17 immunity are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this work could help diagnose the genetic cause of a patient's CMC and point toward more personalized monitoring or targeted treatments.
How similar studies have performed: Previous genetic and cellular studies have already linked many IL-17 pathway gene defects to CMC, but about half of cases still lack a known genetic cause.
Where this research is happening
New York, United States
- Rockefeller University — New York, United States (Active)
Researchers
- Principal investigator: Casanova, Jean-Laurent — Rockefeller University
- Study coordinator: Casanova, Jean-Laurent
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.