Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies

Eligibility 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.
• 1. History of secondary causes of immunodeficiency (eg, HIV infection, immunodeficiency from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion of the investigator.
• 2. 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.
• * The legally effective informed consent of either parent of the neonate or, if neither parent is able to consent because of unavailability, incompetence, or temporary incapacity, the legally effective informed consent of either parent's legally authorized representative is obtained, except that the consent of the father or his legally authorized representative need not be obtained if the pregnancy resulted from rape or incest.
• * Vital functions of the neonate will not be artificially maintained.
• * The research will not terminate the heartbeat or respiration of the neonate.
• * Blood will only be collected from nonviable neonates 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. Therefore, there will be no added risk to the neonate resulting from the research.
• * As described above, many known or suspected PIDs are rare and can present early during life, and it is possible that their manifestations may impact the viability of the neonate. This protocol aims to achieve characterization of such disorders, and this aim could not be achieved for certain disorders if nonviable neonates are excluded. Thus, the purpose of the research is the development of important biomedical knowledge that cannot be obtained by other means.
• * The legally effective informed consent of both parents of the neonate will be obtained.