Understanding genetic causes of autoinflammatory disorders in children
Official title: Inborn Errors of Immunity Leading to Autoinflammatory Syndromes
Funded at Columbia University Health Sciences · NIH-11077573 · Data updated 2026-11-12
This study is looking at rare genetic changes that can cause autoinflammatory syndromes in kids, which lead to problems with their immune system and cause serious skin and stomach issues, with the hope of finding new treatments to help them feel better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | April 20, 2024 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $498,911 |
| NIH project number | 7R01AI148963-05 |
| Project ID | NIH-11077573 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old who exhibit symptoms of severe skin inflammation and gastrointestinal issues linked to genetic immune disorders.
✕Less likely to help
Patients with autoinflammatory conditions not linked to genetic mutations or those over the age of 11 may not benefit from this research.
What this research studies
This research investigates rare genetic mutations that lead to autoinflammatory syndromes in children, focusing on how these mutations affect the immune system and cause severe skin and gastrointestinal inflammation. By utilizing whole exome sequencing, the study aims to identify specific genetic variations that disrupt normal immune responses. The research will explore the underlying mechanisms of these disorders, particularly how overactive immune signaling can lead to harmful health effects. This work could provide insights into potential new treatments for affected patients.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and treatment options for children suffering from autoinflammatory syndromes.
How similar studies have gone: Previous research has shown success in identifying genetic causes of similar autoinflammatory disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Bogunovic, Dusan — Columbia University Health Sciences
- Study coordinator: Bogunovic, Dusan
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.