How ITPR3 mutations affect the immune system
Official title: The impact of ITPR3 mutations on immunity
Funded at Ut Southwestern Medical Center · NIH-11123326 · Data updated 2026-11-12
This study is looking at how certain changes in a gene called ITPR3 affect the immune system in children, helping us understand why some kids might have trouble fighting off infections.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | June 21, 2024 |
| Project end | April 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $205,000 |
| NIH project number | 5R21AI176445-02 |
| Project ID | NIH-11123326 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old who have been diagnosed with immunodeficiency and may have ITPR3 mutations.
✕Less likely to help
Patients who do not have ITPR3 mutations or who are over the age of 11 may not benefit from this research.
What this research studies
This research investigates the effects of specific mutations in the ITPR3 gene on the immune system, particularly in children. By studying these mutations, the researchers aim to understand how they disrupt calcium signaling, which is crucial for immune cell function. The study involves genetic analysis and experiments in mice to explore the implications of these mutations on T and B cell behavior and overall immune response. This could provide insights into the underlying mechanisms of immunodeficiency associated with these mutations.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for children with immune deficiencies linked to ITPR3 mutations.
How similar studies have gone: While there have been studies on ITPR mutations, this specific investigation into the ITPR3 mutation's impact on immunity is novel and has not been extensively tested.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Van Oers, Nicolai Stanislas Cyrille — Ut Southwestern Medical Center
- Study coordinator: Van Oers, Nicolai Stanislas Cyrille
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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.