ISG15 and USP18 gene defects that cause harmful type I interferon disease
Human ISG15 and USP18 Deficiencies Underlying Type I Interferonopathies
This project explores how genetic problems with ISG15 or USP18 lead to harmful type I interferon inflammation in children and others with rare interferon-related autoimmune and neurologic conditions.
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 ID | NIH-11133030 on NIH RePORTER |
What this research studies
This work focuses on people (often children) with ISG15 or USP18 genetic deficiencies that cause type I interferonopathy. Researchers will study blood cells and tissue samples from affected patients and perform lab experiments on patient-derived cells, together with animal studies, to find where interferon responses become harmful. They will use molecular and immunology techniques to map tissue-specific effects and test ways to dial down damaging interferon signals. The goal is to use those findings to guide the development of targeted treatments.
Who could benefit from this research
Good fit: Ideal candidates are children or adults diagnosed with type I interferonopathies or known ISG15 or USP18 genetic defects, or those with clinical signs similar to Aicardi–Goutières syndrome.
Not a fit: People whose illnesses are not driven by type I interferon signaling or who lack ISG15/USP18 mutations are unlikely to benefit directly.
Why it matters
Potential benefit: If successful, this research could point to targeted treatments that reduce harmful interferon-driven inflammation and improve neurologic and autoimmune symptoms.
How similar studies have performed: Genetic links between ISG15/USP18 deficiencies and interferonopathies have been previously reported, but translating those findings into effective therapies is still early and largely unproven.
Where this research is happening
New York, United States
- 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 below.