Understanding how genetic factors influence B cell function in immune disorders
Official title: Genetic determinates of SPI1 expression and activity in human germinal center B cells
Funded at Children's Hosp of Philadelphia · NIH-11132045 · Data updated 2026-11-12
This study is looking at how changes in the SPI1 gene affect the development and function of B cells, which are important for our immune system, to help understand conditions like agammaglobulinemia and autoimmune diseases.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | February 1, 2025 |
| Project end | January 31, 2030 |
| Funding year | 2025 |
| Award (this year) | $820,623 |
| NIH project number | 1R01AI184976-01A1 |
| Project ID | NIH-11132045 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with agammaglobulinemia, common variable immunodeficiency, or related autoimmune conditions.
✕Less likely to help
Patients without any genetic predisposition to B cell dysfunction or those with unrelated immune disorders may not benefit from this research.
What this research studies
This research investigates the role of the SPI1 gene in human germinal center B cells, which are crucial for immune responses. By examining how variations in this gene affect B cell development and function, the study aims to uncover mechanisms that lead to conditions like agammaglobulinemia and autoimmune diseases. The researchers will identify regulatory elements that control SPI1 expression and analyze the impact of specific genetic mutations on B cell behavior. This work could provide insights into the underlying causes of various immune disorders.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with immune deficiencies and autoimmune diseases.
How similar studies have gone: Previous research has shown that genetic mutations affecting transcription factors like SPI1 can lead to significant immune system disorders, indicating a promising avenue for further exploration.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Romberg, Neil David — Children's Hosp of Philadelphia
- Study coordinator: Romberg, Neil David
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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.