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Massive gene hunt aims to unlock secrets of immune disorders

NCT ID NCT00001467

First seen Nov 01, 2025 · Last updated Jun 23, 2026 · Updated 39 times

Summary

This study is looking for the genes that cause certain immune system problems. Researchers want to understand why some people get sick and others don't, even in the same family. Up to 5,000 people with immune disorders and their relatives will give blood or cheek cell samples for genetic testing. The goal is to learn more about these conditions and possibly help families understand their risks.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this research could help doctors better understand, diagnose, and predict immune disorders, potentially guiding treatment and family planning.

What could go wrong

This is an observational study, not a treatment trial. It may not find clear genetic links for all families, and results may not directly change care.

Conditions

The condition(s) this trial relates to.

immune system disorder immunodeficiency disease inborn error of immunity monocytopenia with susceptibility to infections Primary Immunodeficiency Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.