Actively Recruiting
Evaluation of Patients With Immune Function Abnormalities
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-05-01
3500
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation. This may include inherited conditions, such as X-linked severe combined immunodeficiency (XSCID), chronic granulomatous disease (CGD), and leukocyte adhesion deficiency (LAD), or conditions resulting from outside factors, such as graft-versus-host disease (GVHD). The information from this study will be used to establish the pattern and pace of change of the disease and to help develop new treatments. The period of observation and study following enrollment in this study may be for up to one year. In addition these studies may provide the medical information needed to determine eligibility for enrollment in other clinical study protocols and more prolonged follow up. Patients of any age with abnormal immune function who have recurrent or unusual infections, whose blood tests show evidence of immune dysfunction, or who have GVHD, XSCID, CGD or LAD may be eligible for this study. Patients' parents, siblings, grandparents, children, aunts, uncles and first cousins of any age also may be included. Healthy normal volunteers between 18 and 85 years of age are recruited as controls. Normal volunteers undergo a physical examination and provide blood, saliva, and urine samples for immune function studies. Patients' family members provide a medical history, have a physical examination, and give blood and urine samples, and possibly a saliva sample. The samples are used for genetic and routine laboratory studies. Investigators may request tissue samples, such as biopsy specimens, previously removed for medical reasons to be sent to NIH for study. Patients undergo the following tests and procedures: 1. Medical history and physical examination. 2. Blood and urine tests, including analysis for genes involved in immune disorders. 3. Buccal smear (in some patients) for genetic studies. This involves scraping the lining of the mouth near the cheek. 4. Specialized tests to evaluate specific conditions in patients who have an immune disorder that might affect lung function, gum infections or eye problems. These may include chest x-ray, CT scan, breathing function test, dental, eye, and hearing examinations. 5. Follow-up visits of patients with immune problems may occur at 6 months and at one year after the first visit (or more frequently if medically required) to include: * Medical history update * Physical examination * Follow-up on abnormal test results and medical treatments initiated at NIH * Collection of blood, saliva, urine, or wound drainage samples for repeat immune function studies * Tissue study of specimens removed for medical reasons at other institutions besides NIH
CONDITIONS
Official Title
Evaluation of Patients With Immune Function Abnormalities
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients must be at least 2 years old to be seen at the Clinical Center as outpatients and have no active infections; send-in samples accepted at any age.
- Patients must have abnormal immune function shown by recurrent or unusual infections, chronic inflammation, or prior lab evidence.
- Patients must have a primary physician outside of NIH.
- Relatives must be biological mother, father, sibling, child, grandparent, aunt, uncle, or first cousin of a patient.
- Siblings, children, first cousins, aunts, and uncles must be at least 2 years old to be seen at the Clinical Center as outpatients and have no active infections; send-in samples accepted at any age.
- Relatives must be willing to have blood stored for future studies.
- Healthy volunteers must be adults between 18 and 85 years old.
- Healthy volunteers must have hemoglobin count of 11 or higher.
- Healthy volunteers must weigh more than 110 pounds.
- Healthy volunteers must not have a history of intravenous drug use or high-risk activities for HIV exposure.
- Healthy volunteers must be willing to have blood samples stored for future research and modified to induced pluripotent stem cells.
You will not qualify if you...
- Patients or relatives with immune abnormalities solely due to HIV, chemotherapy, or underlying cancer may be excluded if it interferes with study evaluation.
- Pregnant females are not allowed to participate in any procedures that may be dangerous to pregnancy or fetus.
- Healthy volunteers with HIV or viral hepatitis B or C, or history of these diseases since age 11, are excluded.
- Healthy volunteers receiving chemotherapy or with underlying cancer are excluded.
- Healthy volunteers who are pregnant are excluded.
- Healthy volunteers with history of heart, lung, kidney disease, or bleeding disorders are excluded.
AI-Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
P
Patricia L Littel, R.N.
CONTACT
H
Harry L Malech, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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