RecruitingNCT00128973

Evaluation of Patients With Immune Function Abnormalities

Screening and Baseline Assessment of Patients With Abnormalities of Immune Function


Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Enrollment

3,500 participants

Start Date

Sep 19, 2005

Study Type

OBSERVATIONAL

Conditions

Summary

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


Eligibility

Plain Language Summary

Simplified for easier understanding

This study evaluates people with unexplained immune system abnormalities — such as recurring unusual infections, chronic inflammation, or lab-confirmed immune dysfunction — to identify the cause and offer appropriate follow-up. It also studies family members and healthy volunteers to help understand the genetic and immune factors involved. You may be eligible if: - You are a patient with recurrent/unusual infections, chronic inflammation, or prior evidence of immune dysfunction, aged 2+ years for in-person evaluation (samples only may be sent in at any age) - You are a biological relative of a patient (parents, siblings, grandparents, aunts/uncles, first cousins) — siblings and children aged 2+ for in-person; other relatives aged 18+ - You are a healthy adult volunteer aged 18–85, healthy, weighing over 110 pounds, without a history of IV drug use or high HIV-risk activities You may NOT be eligible if: - Your immune deficiency is solely due to HIV, chemotherapy, or an underlying cancer (may interfere with the specific immune abnormality being studied) - You are a healthy volunteer with HIV, hepatitis B or C, cancer, heart/lung/kidney disease, or bleeding disorders - You are pregnant Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

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NCT00128973


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