Novel Genetic Disorders of the Immune System
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
| Condition(s) | PI3KCD, CTLA4, STAT3GOF, MAGT1 |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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 |
| Who can participate | * 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 limited to, whole exome and whole genome sequencing. * Priority may be given to individuals with a family history (if readily available) suggestive of multiple affected members with a constellation of sign |
| Ages | 3 Years to 99 Years |
| Sex | All |
| Lead sponsor | National Institute of Allergy and Infectious Diseases (NIAID) |
| Locations | Bethesda, Maryland, United States |
| Start date | 2014-10-22 |
| NCT ID | NCT02257892 |
| Official listing | https://clinicaltrials.gov/study/NCT02257892 |