Understanding how a genetic immune condition affects B cell development and function
Official title: Leveraging a novel human inborn error of immunity to understand B cell development and function
Funded at Vanderbilt University Medical Center · NIH-11129649 · Data updated 2026-11-12
This study is looking at a rare genetic condition that affects kids' immune systems, especially how their B cells work to fight off infections, to help find better ways to prevent and treat severe respiratory infections in children with a specific genetic mutation.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project start | July 2, 2024 |
| Project end | May 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $504,872 |
| NIH project number | 5R01AI184471-02 |
| Project ID | NIH-11129649 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 5 years old who experience severe or recurrent respiratory infections and may have an underlying inborn error of immunity.
✕Less likely to help
Patients who do not have respiratory infections or those over the age of 11 are unlikely to benefit from this research.
What this research studies
This research investigates a rare genetic condition that impacts the immune system, particularly focusing on how it affects B cells, which are crucial for fighting infections. By studying children with severe respiratory infections caused by a specific genetic mutation, researchers aim to uncover the underlying mechanisms that lead to these immune deficiencies. The approach includes advanced genetic sequencing and detailed analysis of immune cell behavior to identify how this mutation disrupts normal immune function. The goal is to improve prevention and treatment strategies for children at high risk of severe infections.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools and targeted therapies for children with immune deficiencies, ultimately reducing the risk of severe infections.
How similar studies have gone: Previous research on inborn errors of immunity has shown promise in identifying genetic causes of immune deficiencies, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Vanderbilt University Medical Center
Nashville, United States Active
Researchers
- Principal investigator: Markle, Janet G — Vanderbilt University Medical Center
- Study coordinator: Markle, Janet G
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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.