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Scientists seek answers for rare immune disorder

NCT ID NCT00006150

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 24, 2026 · Last updated Sep 01, 2026 · Updated 19 times

Summary

This study aims to learn more about Hyper IgE syndrome, a rare immune disorder that causes skin and lung infections. Researchers will follow 600 patients and their relatives over time, examining their health and genetics. The goal is to better understand the disease and improve care, not to test a new treatment.

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 study could lead to better diagnosis, management, and understanding of Hyper IgE syndrome, potentially guiding future treatments.
What could go wrong
This is an observational study, not a treatment trial. It may not directly improve health for participants, and results may take years to translate into clinical practice.

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 600 people

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

Started

Aug 2000

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

primary clinical

Ages

1 month to 120 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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 may be included in this study who: * Were referred to the NIH with a diagnosis or a suspicion of Hyper IgE syndrome. * Are patients referred for other immune syndromes that demonstrate some of the characteristics of HIES. * \>=1 month for affected subjects * Aged \>=2 years for unaffected subjects * For unaffected subjects, are able to understand and have the willingness to sign a written informed consent document. Unaffected biological relatives of HIES patients are also eligible to enroll in a separate relative cohort. EXCLUSION CRITERIA: Coronary CTA will not be performed on any patient younger than 30 years or with contraindication to IV contrast media. This includes patients with 1) creatinine value of \>1.3 mg/dL, 2) history of multiple myeloma, 3) Use of metformin-containing products less than 24 hours prior to contrast media, and 4) history of significant allergic reaction to CT contrast agents despite the use of premedication. Subjects with a medical, psychiatric, or social condition which, in the opinion of the investigator, would place undue burden on the subject, NIH resources, or increase risk of participation, may be excluded.

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Conditions

The condition(s) this trial relates to.

combined immunodeficiency due to DOCK8 deficiency hyper-IgE recurrent infection syndrome 1, autosomal dominant hyper-IgE syndrome immune system disorder inborn error of immunity Infections infectious disease Job Syndrome pneumonia

As listed by the trial registrant

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

Immune system diseases Infections Job syndrome Pneumonia STAT3 transcription factor

How to take part

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

  1. The places running it

    1 site. 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

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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