Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies
Trial Parameters
Brief Summary
Background: The immune system helps the body fight infections. Primary immunodeficiency disorders (PIDs) are diseases that make it easier for people to get sick. Many PIDs are inherited. This means parents can pass them on to their children. Knowing what causes a person s PID is important to decide what treatment to give them. Objective: To test samples from people with a PID or people related to someone with a PID to find out what causes PIDs. Eligibility: People ages 99 or younger who have a PID or have a relative with a PID Design: Participants will be screened with a medical history over the phone. They may need to give permission for researchers talk to their doctors about their health. Their relatives may be contacted to see if they want to join the study. Participants will give samples. These could be: Blood: Participants blood will be taken from a vein in an arm, or with a prick on the finger or heel for children. Saliva, urine, or stool: Participants will provide each sample in a special cup. Nose or cheek swab: Participants will rub the skin inside their nose or cheek using a cotton swab. Cord blood: If participants have a baby during the study, blood will be collected from the baby s umbilical cord after it is born. Samples from medical procedures: If, during the study, the participants have a medical procedure that collects samples, the samples may be used for the study.
Eligibility Criteria
* INCLUSION CRITERIA: Participants enrolled onto this protocol must meet all of the following criteria: 1. Age 0-99 years. 2. Meets 1 of the following criteria: 1. Patient with a clinical diagnosis of a form of PID (either known or suspected). PID may be defined by laboratory and/or clinical findings on 2 or more occasions that are consistent with a defect in innate or adaptive immunity. Specific PIDs are defined by the guidelines of the International Union of Immunological Societies. 2. Biological relative of an individual meeting criterion 2a, with no clinical evidence of having a PID. Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, or first cousins to an individual with a known or suspected PID. 3. Able to provide informed consent. 4. Willing to allow genetic testing and allow biospecimens to be modified into induced pluripotent stem (iPS) cells. 5. Willing to allow storage of samples and data for future research. EXCLUSION CRITERIA: Individuals mee