How FOXP3 defects change regulatory T cells
Specification of Treg cells: learning from FoxP3 deficiencies
This work looks at how specific FOXP3 mutations change regulatory T cells in people with IPEX and in carrier relatives.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Harvard Medical School NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11125750 on NIH RePORTER |
What this research studies
Researchers will examine blood immune cells from people with IPEX (caused by FOXP3 mutations) and from carrier female relatives to see how different FOXP3 changes affect regulatory T cells. They will use single-cell RNA sequencing and chromatin-accessibility (ATAC-seq) and 3-D genome methods to read which genes are active in individual cells and how the genome is organized. The team will compare samples with different FOXP3 mutations and use matched patient and mouse data to separate changes that are intrinsic to Treg cells from those caused by the disease environment. Findings will be linked to the variable symptoms seen in people with FOXP3 defects.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with IPEX or other FOXP3-related immune disorders and carrier female relatives willing to donate blood samples.
Not a fit: Patients whose autoimmunity is not related to FOXP3 mutations, or who cannot provide blood samples, are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could explain why different FOXP3 mutations produce different autoimmune problems and suggest targets for more personalized treatments.
How similar studies have performed: Previous single-cell and mouse studies have shown FOXP3-linked Treg defects, but directly mapping the effects of specific patient FOXP3 mutations is a newer and less-tested approach.
Where this research is happening
Boston, United States
- Harvard Medical School — Boston, United States (Active)
Researchers
- Principal investigator: Benoist, Christophe O. — Harvard Medical School
- Study coordinator: Benoist, Christophe O.
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.