RecruitingNCT02257892

Novel Genetic Disorders of the Immune System


Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Enrollment

500 participants

Start Date

Oct 22, 2014

Study Type

OBSERVATIONAL

Conditions

Summary

Background: \- The immune system helps the body fight infection and disease. People with immune system problems can get infections, blood disorders, and other health problems. Researchers want to learn more about the immune system, like what causes it to not work properly. Objectives: \- To evaluate people with certain types of immune system disorders. Eligibility: \- Adults and children with an immune disorder or symptoms of one, and their relatives. Some disorders are not included in this study. Design: * Researchers will review participants medical records. * Participants may mail in a blood or saliva sample, or be evaluated at the clinic. At the clinic, they may have a medical history, physical exam, blood tests, and imaging scans (with dye given through a needle in the arm). They may have genetic testing done on a sample of blood, saliva, hair, or nail clipping. * Participants may choose to have a skin biopsy. Up to 2 skin samples will be taken from their arm, back, or other area. A biopsy punch is inserted into the skin and rotated. A small circle of skin is removed. * Participants 10 and older may also choose to have leukapheresis. Blood is taken through a needle in one arm. It passes through a machine that separates the white blood cells. The rest of the blood is returned by needle in the other arm. * Researchers may recommend medicines, but no treatments are being studied. * Participants may be invited to return for visits over several years. At those visits, they may repeat some or all of the above tests. Or they may mail in blood or other samples. They may also send medical records.


Eligibility

Min Age: 3 YearsMax Age: 99 Years

Plain Language Summary

Simplified for easier understanding

This study investigates patients and families with novel or poorly understood genetic immune system disorders — conditions where the immune system is overactive, underactive, or dysregulated in unusual ways. By performing advanced genetic testing (including whole genome sequencing), researchers hope to identify the specific genetic mutations causing rare immune conditions and develop better treatments. You may be eligible if: - You are between 3 and 99 years old (patients and relatives) - You have signs of significant immune dysregulation such as unusual infections, autoimmunity, lymphadenopathy, allergies, or unexplained lab abnormalities - You have a genetic basis for your immune disorder, or symptoms strongly suggesting an uncharacterized immune condition - You have a referring physician outside NIH who can document your health history - You are willing to allow sample storage, genetic testing, and data sharing - Women who are pregnant or breastfeeding may be eligible as probands or controls You may NOT be eligible if: - Your genetic immune disorder is already well-characterized (e.g., SCID, CGD) - You have received chemotherapy for cancer within the past 6 months or have HIV or mycobacterial infections - You have a well-defined autoimmune condition such as lupus, Hashimoto's thyroiditis, Addison's disease, Graves' disease, sarcoidosis, or rheumatoid arthritis - Your condition requires highly specialized care that NIH cannot provide 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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NCT02257892


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