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Evaluating Immune Function Abnormalities

This observational study is looking at people with unusual infections or ongoing inflammation due to problems with their immune system. This includes conditions like Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), and Graft Versus Host Disease (cGvHD). The study aims to understand how these diseases change over time, including the types of infections and inflammation you might experience, and how different organs are affected. Researchers will also study blood cells from patients and their family members to understand the genetic and biochemical reasons behind these immune problems. The goal is to gather information that can help develop better treatments in the future. You would be observed for up to one year after joining.

Study design
This is an observational study with a planned enrollment of 3500 participants. It is not a randomized or blinded study.
What's involved
You would have baseline assessments and then remain on study for long-term assessments of your condition, potentially for up to one year. This may involve providing blood and/or bone marrow cells.
Compensation
Not stated in the trial record.
Follow-up
You will be observed for up to one year after enrollment to assess the pattern and pace of change of your disease and organ involvement.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00128973

Evaluation of Patients With Immune Function Abnormalities

Recruiting
Not specifiedAll AgesObservational
National Institute of Allergy and Infectious Diseases (NIAID)
~3,500 participants
Updated 2026-09-01 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
To establish the pattern and pace of change of disease (frequency, distribution, type and extent of infections, inflammatory lesions and abnormalities of immune function) during a period of up to one year baseline assessment.
Measured over ongoing throughout study
+3 more outcomes measured

Conditions

Chronic Granulomatous Disease (CGD)
X-Linked Severe Combined Immune Deficiency (XSCID)
Leukocyte Adhesion Deficiency 1 (LAD)
Graft Versus Host Disease (cGvHD)

Explore related trials

Chronic Granulomatous DiseaseGraft Versus Host DiseaseImmunodeficiencyLeukocyte Adhesion DeficiencySevere Combined Immunodeficiency

NCT00128973

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Institutes of Health Clinical Center

    Bethesda, Marylandstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Harry L Malech, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

Who to contact

Patricia L Littel, R.N.
[email protected]
(301) 335-1744
Email the study team

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Eligibility criteria

Inclusion

Must be 2 years of age to be seen at the Clinical Center as an outpatient and they must not have any active infections. Send-in samples for clinical diagnosis at any age.
Have an abnormality of immune function as manifested by:
recurrent or unusual infections,
recurrent or chronic inflammation, or
previous laboratory evidence of immune dysfunction.
Have a primary physician outside of the NIH.
Be a biological mother, father, sibling, child, grandparent, aunt, uncle, or first cousin to a patient.
Sibling, child, first cousin, aunt, and uncle must be 2 years of age to be seen at the Clinical Center as an outpatient with no active infections, Send-in samples for clinical diagnosis at any age.
Be willing to have blood stored for future studies and/or other research purposes.
Be a healthy adult of either sex and between age of 18 and 85 years old.
Have a hemoglobin count of \>=11.
Weight greater than 110 pounds.
Not have a history of intravenous injection drug use.
Not have a history of engaging in high-risk activities for exposure to HIV.
Be willing to have their blood samples stored for future research and modified to iPS cells.

Exclusion

Have HIV or viral hepatitis (B or C), or history of viral hepatitis B or C since age 11.
Receiving chemotherapeutic agent(s) or have underlying malignancy.
Pregnant.
Have history of heart, lung, kidney disease, or bleeding disorders.

What this trial measures

  • To establish the pattern and pace of change of disease (frequency, distribution, type and extent of infections, inflammatory lesions and abnormalities of immune function) during a period of up to one year baseline assessment.ongoing throughout study

    Identification pregression and pattern of disease over time

  • To establish the extent of organ involvement (infection and/or inflammation) and organ damage or dysfunction resulting from the abnormality of immune function.ongoing throughout study

    Identification of severity of disease as it relates to immune function in PID

  • To determine genetic linkage and biochemical correlates of the patient s abnormality of immunity by study of first and second-degree related family members blood cells (buccal smears instead of blood for genetic studies in some individuals)...ongoing throughout study

    Identification of genetic links and biochemical correlates of PID to clinical manifestations

  • To characterize the physiologic, biochemical or genetic basis of the abnormality of immunity.ongoing throughout study

    Identification of the pathophysiology and genetic basis of abnormalities of immune function under study