Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies

Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies

Individuals with suspected primary immunodeficiency will be studied and the results compared with healthy controls. Primary immunodeficiency may manifest as recurrent, severe or unusual infections as well as signs and symptoms of immune dysregulation such as autoimmunity or lymphoproliferation.

Patients with a suspected immunodeficiency will be identified and invited to participate. Upon agreement, an additional blood sample will be collected when they have their routine bloods taken. If the study participants undergoes anaesthesia for any other reason, a small skin biopsy will be taken as well. Additional samples including blood samples or mouth swabs will be taken from healthy family members. Blood from healthy controls will only be taken when there is a clinical need for blood sampling (or when the study participant is already anaesthetised for any other reason) and not for research purposes only.

Inclusion Criteria:

• Patients: Pediatric patients (in/outpatient or referred) with suspected or confirmed Inborn Errors of Immunity.
• Relatives: Healthy or affected biological relatives of enrolled patients.
• Controls: Healthy volunteers with no history of chronic immunological, inflammatory, or infectious disease.
• Consent: Ability to provide signed informed consent (or guardian consent).