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Scientists gather clues on mysterious immune defects

NCT ID NCT04408950

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 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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Aug 21, 2026 · Updated 7 times

Summary

This study collected blood, saliva, stool, urine, and skin samples from 19 people with unknown or poorly understood immune system problems. The goal was to learn how different parts of the immune system work together. No treatments or drugs were tested. Participants were followed for up to 5 years to track health changes.

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

19 people

The number who actually took part.

Started

Nov 2020

Finished

Jan 2025

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

Study participants will be selected or referred to the protocol from other NIH groups whose patients have an uncharacterized immune defect. Unaffected biological relatives of these participants may also be recruited.

Ages

2 to 120 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: 1. Aged greater than or equal to 2 years. 2. Meets 1 of the following criteria: a. Patient with a suspected or known/molecularly defined but incompletely characterized immune disorder (as determined by a referring NIH study staff member) AND meeting at least one of the following: i. within 1 year of screening, abnormal immune function demonstrated by at least one laboratory test result outside the normal range ii. history of severe or atypical infection, immune dysregulation (defined as autoimmunity, lymphoproliferation, or HLH), or autoinflammatory symptoms (defined as episodic fever often associated with dermatitis, gastrointestinal symptoms, and arthropathy). b. Biological unaffected relative of an individual meeting criterion 2a but who does not meet criterion 2a himself/herself. Unaffected relatives may be mother, father, siblings, children, grandparents, aunts, uncles, or first cousins to the individual. 3. Willing to allow storage of samples and data for future research. 4. For patients, currently or previously enrolled on an NIH protocol that performs WES or WGS and that allows sharing of sequence data. 5. For unaffected relatives, able to provide informed consent. EXCLUSION CRITERIA: Individuals meeting any of the following criteria will be excluded from study participation: 1. History of secondary causes of immunodeficiency or dysregulation (e.g., HIV infection, immunodeficiency from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion of the investigator. 2. Pregnancy. 3. Any condition that, in the opinion of the investigator, contraindicates participation in this study.

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Conditions

The condition(s) this trial relates to.

immune system disorder immunodeficiency disease inborn error of immunity

As listed by the trial registrant

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

Immunodeficiency

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.