How genetic changes control SPI1 in human germinal center B cells
Genetic determinates of SPI1 expression and activity in human germinal center B cells
['FUNDING_R01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11270630
This research looks at how genetic changes affecting the SPI1 gene in human B cells may relate to immune problems like CVID, agammaglobulinemia, and some autoimmune diseases.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CHILDREN'S HOSP OF PHILADELPHIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11270630 on ClinicalTrials.gov |
What this research studies
From a patient perspective, researchers will study SPI1, a key gene that helps control B cells, by working with human germinal center B cells from patients. They will map DNA regions that control SPI1 (using methods such as ATAC-seq), examine how specific SPI1 coding changes alter the gene's self-regulation, and test how loss- or gain-of-function changes affect B cell maturation and gene activity. The team will use patient-derived samples and laboratory cell experiments to link genetic variants to clinical immune phenotypes. This work aims to explain why certain genetic changes lead to antibody deficiencies or autoimmune problems.
Who could benefit from this research
Good fit: Ideal candidates are people with B-cell disorders such as agammaglobulinemia, common variable immunodeficiency (CVID), Waldenström macroglobulinemia, or related autoimmune conditions who can provide blood or lymphoid tissue samples.
Not a fit: People without B-cell related conditions or those seeking immediate therapeutic treatment are unlikely to get direct medical benefit from this basic biology-focused project.
Why it matters
Potential benefit: If successful, the work could improve diagnosis and point to new, more precise treatments for B-cell immune disorders.
How similar studies have performed: Prior genetic studies have already linked SPI1 mutations to rare B-cell diseases, but detailed work on SPI1 regulation in human germinal center responses is largely new.
Where this research is happening
PHILADELPHIA, UNITED STATES
- 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
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.
Conditions: Autoimmune Diseases