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Scientists hunt for genetic clues to mysterious immune diseases

NCT ID NCT00246857

Knowledge-focused Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 26, 2026 · Last updated Sep 17, 2026 · Updated 25 times

Summary

This study aims to find the genetic causes of inherited immune problems that affect white blood cells called lymphocytes. Researchers will review medical records and collect blood samples from up to 5,000 people with suspected immune disorders, as well as their relatives. The goal is to understand why some people have enlarged lymph nodes, autoimmune issues, or frequent infections due to problems with cell growth and death.

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 could lead to better understanding of genetic immune diseases and potentially point toward future treatments.
What could go wrong
This is an observational screening study, not a treatment trial. It may not directly benefit participants and could take years to yield meaningful results.

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

Study facts

What this study's own registry entry says, in plain language.

Participants

About 5,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Feb 2007

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients referred by physician with a suspected inherited immune deficiency and their unaffected relatives.

Ages

1 month to 100 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

* INCLUSION CRITERIA: Patients known to have or suspected of having an inherited immune cell homeostasis, programmed cell death susceptibility syndrome, lymphocyte developmental block, or defective immune cell effector functions will be eligible for enrollment. We will enroll patients with suspected disease if the investigator agrees that there is a high index of suspicion. Blood relatives of enrolled patients will be eligible for enrollment. There will be no limit as to age, sex, race, or disability. EXCLUSION CRITERIA: Severely debilitated health status or poor venous access may preclude obtaining adequate specimens for analysis. The minimum weight for infants on this protocol is 3 kg because of the limits of maximal acceptable blood draw volumes and minimum requirement for core laboratory tests would exceed the acceptable volume. Co-enrollment guidelines: Participants may be co-enrolled in other studies including NIH protocols 05-I-0213, 93-I-0063 and 17-I-0122. Participants should inform the investigator of participation in other research studies.

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Conditions

The condition(s) this trial relates to.

autoimmune disease hereditary disease immunodeficiency disease immunodysregulation with variable immunodeficiency and autoimmunity inborn error of immunity Primary Immunodeficiency Diseases

As listed by the trial registrant

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

Primary immune deficiency

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    8 sites in 2 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Ankara Medical University

    RECRUITING

    Ankara, Turkey (Türkiye)

  • Gazi University

    RECRUITING

    Ankara, Turkey (Türkiye)

  • Hacettepe University

    RECRUITING

    Ankara, Turkey (Türkiye)

  • Marmara University

    RECRUITING

    Istanbul, Turkey (Türkiye)

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

  • Necemttin Erbakan University

    RECRUITING

    Konya, Turkey (Türkiye)

  • Sureyyapasa Chest Diseases and Chest Surgery Training and Research Hospital

    RECRUITING

    Istanbul, Turkey (Türkiye)

  • University of Michigan

    RECRUITING

    Ann Arbor, Michigan, 48109-0624, United States

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