Understanding genetic causes of immune problems and infections in children
Official title: Curation of genetic defects causing combined immunodeficiency and infections in children
Funded at Baylor College of Medicine · NIH-11096829 · Data updated 2026-11-12
This project aims to better understand the genetic changes that cause severe immune system problems and infections in children.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | July 1, 2021 |
| Project end | June 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $1,047,682 |
| NIH project number | 2U24HD104590-04 |
| Project ID | NIH-11096829 on NIH RePORTER |
Who could benefit from this research
✓Could help
This work is relevant for children, especially newborns and those up to 11 years old, who have been diagnosed with combined immunodeficiency or severe combined immunodeficiency and have uncertain genetic test results.
✕Less likely to help
Patients without combined immunodeficiency or severe combined immunodeficiency, or those whose genetic causes are already clearly understood, may not directly benefit from this specific curation effort.
What this research studies
Many children are born with primary immunodeficiency disorders (PIDD), which make them very vulnerable to infections early in life. The most severe forms, called Combined or Severe Combined Immune Deficiencies (CID or SCID), affect both parts of the immune system. While newborn screening helps identify these conditions, genetic tests often show 'variants of uncertain significance,' making it hard for doctors to choose the best treatment. This work focuses on gathering and reviewing expert information about these genetic changes to help families and doctors make more informed decisions.
Why it matters
Potential benefit: If successful, this work could lead to faster and more accurate diagnoses, helping doctors choose the most effective treatments for children with severe immune deficiencies.
How similar studies have gone: This project builds upon extensive prior research identifying genetic links to immunodeficiency disorders, aiming to consolidate and clarify existing knowledge.
Where this research is happening
-
Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Chinn, Ivan Kingyue — Baylor College of Medicine
- Study coordinator: Chinn, Ivan Kingyue
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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.