Investigating immune responses in patients with 17q12 deletion syndrome
Studying alterations of T cell immune responses in the 17q12 deletion syndrome
This study is looking at how a missing piece of DNA on chromosome 17 affects the immune system in people with 17q12 deletion syndrome, especially how their T cells respond, to help find better ways to manage severe allergies and infections.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-10518405 on NIH RePORTER |
What this research studies
This research focuses on understanding how the deletion of a specific DNA sequence on chromosome 17 affects the immune system in individuals with 17q12 deletion syndrome. The study will analyze T cell responses, particularly looking at the production of certain cytokines that are crucial for immune function. By examining blood samples from patients, researchers aim to identify any immune dysregulation that may contribute to severe allergic reactions and infections. This could lead to better management strategies for patients experiencing these complications.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with 17q12 deletion syndrome, especially those experiencing immune-related issues such as severe allergies or recurrent infections.
Not a fit: Patients without a diagnosis of 17q12 deletion syndrome or those not experiencing immune-related complications may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments and management strategies for patients with 17q12 deletion syndrome, particularly those suffering from immune-related disorders.
How similar studies have performed: While the specific focus on immune responses in 17q12 deletion syndrome is novel, similar studies on immune dysregulation in other genetic syndromes have shown promising results.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Kang, Insoo — Yale University
- Study coordinator: Kang, Insoo
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.