Scientists hunt for genetic clues in rare immune disease

NCT ID NCT03427593

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study looked at 27 adults with a severe form of primary immunodeficiency, which causes frequent infections, enlarged lymph nodes, and low white blood cells. Researchers analyzed their DNA to find known and new genetic mutations linked to the condition. The goal was to better understand the biological pathways involved, which could help improve diagnosis and guide future research.

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 identify new genes involved in severe immune disorders, pointing toward better diagnosis or future treatments.
What could go wrong
This is a small, observational study (27 people) that looks at genetics, not a treatment trial. It may not find new mutations or lead directly to therapies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

Contacts and locations

Locations

  • Service d'Immunologie Clinique et VIH - Hôpital Civil

    Strasbourg, 67091, France