Understanding gene changes that cause severe allergies
Mechanistic elucidation of pathogenic CBM complex mutations associated with atopic disease
This project explores how specific gene changes in white blood cells lead to severe allergies like eczema, asthma, and food allergies in children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Henry M. Jackson Fdn for the Adv Mil/med NIH-funded |
| Lab location | 1 site (Bethesda, United States) |
| Project ID | NIH-11118890 on NIH RePORTER |
What this research studies
Our bodies have special white blood cells that help fight off infections, but sometimes gene changes can make them work incorrectly, leading to severe allergic reactions. This project looks closely at how specific changes in genes, particularly in a group called the CBM complex, disrupt these white blood cells. We want to understand exactly how these gene changes cause conditions like severe eczema, asthma, and food allergies. We are also exploring if a substance called glutamine could be a helpful treatment for these conditions.
Who could benefit from this research
Good fit: This research focuses on patients, particularly children aged 0-11, who experience severe atopic diseases like eczema, asthma, and food allergies linked to specific gene mutations.
Not a fit: Patients whose allergic conditions are not related to mutations in the CBM complex genes may not directly benefit from this specific line of research.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of the root causes of severe allergies and potentially new treatment options, such as glutamine, for affected patients.
How similar studies have performed: Previous work by these researchers has successfully identified and characterized human immune disorders linked to CARD11 mutations, providing a strong foundation for this continued investigation.
Where this research is happening
Bethesda, United States
- Henry M. Jackson Fdn for the Adv Mil/med — Bethesda, United States (Active)
Researchers
- Principal investigator: Snow, Andrew L — Henry M. Jackson Fdn for the Adv Mil/med
- Study coordinator: Snow, Andrew L
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.