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Observational Study for Immune Defects

This is an observational study looking at people with known or suspected immune defects (problems with the body's defense system) and their family members. Researchers want to understand the causes of recurrent or unusual infections. They will collect samples like blood, urine, and saliva over time to study the genetic and chemical reasons behind these diseases. The goal is to improve understanding of these conditions, which could help in developing future treatments. Success in this study would mean seeing an improvement in the disease, either by returning to normal health or by needing less medication like steroids or antimicrobials.

Study design
This is an observational study, meaning participants are monitored without receiving a specific intervention. It plans to enroll 3600 participants.
What's involved
Participants would provide samples such as blood, urine, saliva, skin, stool, vaginal specimens, or wound drainage periodically. This study involves long-term follow-up.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed long-term, with improvement measured at complete withdrawal from steroids or sustained reduction to low-dose antimicrobials or immune modulators.

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NCT00001355

Detection and Characterization of Host Defense Defects

Recruiting
Not specifiedAges 1+Observational
National Institute of Allergy and Infectious Diseases (NIAID)
~3,600 participants
Updated 2026-08-18 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Improved disease if either normalization or sustained improvement is observed.
Measured over Complete withdrawal from steroid or sustained reduction to low dose antimicrobials or immune modulators.

Conditions

Immune Defects

Explore related trials

Immunodeficiency

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Steven M Holland, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

Who to contact

Dawn E Shaw, R.N.
[email protected]
(301) 401-4740
Email the study team

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Eligibility criteria

Inclusion

Children: Children are included in this study because immune defects may present in early childhood, and early diagnosis or characterization may benefit subjects.
Decisionally impaired adults: Patients and patient relatives will be able to provide informed consent for themselves or if they lack the capacity to provide informed consent, the study team will obtain consent from the legally authorized representative. Patients with underlying immune disorders, autoimmune phenomena or severe infections may sometimes present with delirium, encephalopathy, or coma and are therefore unable to provide informed consent. Excluding patients who are unable to provide consent could adversely impact patient access to medical therapy at the NIH as well as adversely impact research recruitment. Excluding patients unable to provide consent would also essentially prohibit us from evaluating patients at higher risk for adverse outcomes and therefore skew our understanding of disease. Similarly, enrolled patient subjects who lose the ability to provide ongoing consent during study participation may continue in the study. The risks and benefits of participation for subjects unable to consent should be identical to those described for less vulnerable patients. The process for obtaining consent for these individuals is described below.

What this trial measures

  • Improved disease if either normalization or sustained improvement is observed.Complete withdrawal from steroid or sustained reduction to low dose antimicrobials or immune modulators.

    The primary endpoint of this study will be determination of a discrete diagnosis of an infecting agent, an underlying susceptibility trait, or both.