Why natural killer (NK) cells fail in people with NK cell deficiency
Genetic, Immunologic and Mechanistic Basis of Human NK Cell Deficiency
['FUNDING_R01'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11379436
This project seeks genetic and immune system reasons for NK cell problems in people with NK cell deficiency to help improve diagnosis and care.
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-11379436 on ClinicalTrials.gov |
What this research studies
You would join a coordinated program that collects your medical history and blood samples to look for genetic and immune causes of NK cell problems. The team uses exome sequencing and other genetic tests and works with an international referral network to find similar patients and candidate genes. Laboratory researchers run functional experiments on patient cells to see how gene changes alter NK cell responses to viruses and cancer. When a genetic cause is identified, the team aims to return results to families and use the findings to guide clinical care and future NK cell–based treatments.
Who could benefit from this research
Good fit: Ideal candidates are people with recurrent or severe viral infections, certain virus-associated cancers, or clinical tests showing abnormal NK cell numbers or function, who are willing to provide medical information and blood samples.
Not a fit: People without NK cell abnormalities or those unwilling/unable to provide samples or travel for evaluation are unlikely to benefit directly from participation.
Why it matters
Potential benefit: If successful, this work could lead to more precise genetic diagnoses, better clinical care plans, and new ways to use NK cells therapeutically.
How similar studies have performed: Similar genomic and functional approaches from this group and others have already discovered new NKD genes and provided diagnoses for affected patients, so this builds on prior successes.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ORANGE, JORDAN SCOTT — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: ORANGE, JORDAN SCOTT
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: Cancers, Candidate Disease Gene