Novel Genetic Disorders of the Immune System
National Institute of Allergy and Infectious Diseases (NIAID)
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.
Description
This study is designed to evaluate patients with suspected or identified novel immune disorders, with a focus on abnormal immune homeostasis potentially due to defects in activation or apoptosis. Blood relatives of enrolled patients will also be evaluated. Affected individuals may have Mendelian gene defects involving mostly single or occasionally multiple genes. These patients may have signs and symptoms suggestive of clinically significant lymphocyte homeostasis disorders. However, some selected patients manifesting autoimmunity, autoinflammatory conditions, end-organ dysfunction, Epstein-Ba…
Eligibility
- Age range
- 3–99 years
- Sex
- All
- Healthy volunteers
- No
* INCLUSION CRITERIA: The following inclusion criteria apply to all subjects: * Patient and relatives aged 0-99 years old to include women who are pregnant or breastfeeding. Only patients \>2 years of age, in stable clinical status and meeting the weight requirement of the NIH CC will be physically evaluated at the NIH CC. * Willingness to allow storage of blood, saliva, and other tissue specimens for future use in medical research. * Willingness to participate in genetic testing and allow sharing of genetic information in secure databases like dbGAP. These tests may include, but are not lim…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland