How a STAT1 gene change alters immune responses
Official title: Genomic regulation of immune response by a STAT1 gain of function mutation
Funded at Ohio State University · NIH-11458029 · Data updated 2026-11-12
This project looks at how a STAT1 gain-of-function genetic change rewires immune cells and contributes to infections and autoimmunity in people with STAT1-related disease.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ohio State University NIH-funded |
| Lab location | 1 site (Columbus, UNITED STATES) |
| Project start | September 1, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $249,000 |
| NIH project number | 4R00AI177758-02 |
| Project ID | NIH-11458029 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with confirmed STAT1 gain-of-function mutations, or patients with recurrent fungal and/or severe viral infections and related autoimmune symptoms, would be the most relevant candidates to contribute samples or be considered for future therapies.
✕Less likely to help
People without STAT1 mutations or those with unrelated causes of immune problems are unlikely to directly benefit from the findings in the near term.
What this research studies
The team uses a mouse model carrying the same STAT1 mutation seen in patients to watch how immune cells respond to infections over time. They study long-lasting changes in gene control (epigenetics) after exposure to cytokines and map which genes and regulatory regions are altered. Experiments include looking at liver immune cells, the role of the microbiome, and genomic assays such as ATAC-seq, and the work is linked back to samples or data from affected people. The aim is to understand why people with STAT1-GOF have both fungal susceptibility and severe viral or inflammatory complications.
Why it matters
Potential benefit: If successful, this work could reveal why STAT1-GOF patients get specific infections and point to new targets or strategies to correct immune imbalances.
How similar studies have gone: Prior clinical and laboratory studies have shown that STAT1-GOF causes immune imbalances and infection risk, but using epigenetic mapping and microbiome-linked tissue studies to explain long-term reprogramming is a newer approach.
Where this research is happening
-
Ohio State University
Columbus, United States Active
Researchers
- Principal investigator: Philips, Rachael Laura — Ohio State University
- Study coordinator: Philips, Rachael Laura
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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.