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.
Age 0-99 years.
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.
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.
Able to provide informed consent.
History of secondary causes of immunodeficiency (eg, HIV infection, immunodeficiency from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion of the investigator.
Any condition that, in the opinion of the investigator, contraindicates participation in this study.
Many PIDs are rare and present early in life, and it is possible that the manifestations of a known or suspected PID may impact the viability of the neonate. Research testing of neonates with known or suspected PIDs could provide insight into current and future health risks, which may provide guidance for medical management and thus benefit the neonate and possibly enhance the probability of survival.
The only risks of study participation are the risks of blood draw. When possible, blood for this study will be collected at the time of clinically indicated blood draws so that there is no additional needlestick, and blood volumes will be limited based on the clinical status of each participant. Collection of blood is the only possible method to conduct the research testing under this protocol that may directly benefit the neonate by revealing insights about health risks and medical management. Thus, the risk is the least possible for achieving that objective.