Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies (GSI)

University of Zurich (UZH)

Status: Enrolling

Conditions: Immunologic Deficiency Syndromes

Treatments: Procedure: blood sampling and skin biopsy; Procedure: blood sampling or mouth swap; Procedure: blood sampling

Study type: Observational

Funder types: Other

Identifiers

NCT02735824

GSI KEK_2015-0555

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 500 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Patient with suspected PID, healthy relative or healthy volunteer
• consent

Exclusion criteria

• none

Trial design

500 participants in 3 patient groups

patients with suspected PID

Description:

From included patients with suspected primary immunodeficiency (PID), i.e. patients with recurrent/unusual infection, immune dysregulation and/or susceptibility to malignancies from whom consent to participate was obtained, nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement.

Treatment:

Procedure: blood sampling and skin biopsy

healthy relatives of patients with PID

Description:

From healthy relatives of patients with suspected PID from whom consent to participate was obtained, nucleated cells will be used for genetic testing in order to compare their genetic information with the one form their relatives with suspected PID.

Treatment:

Procedure: blood sampling or mouth swap

Healthy volunteers

Description:

From healthy volunteers from whom consent to participate was obtained, nucleated blood cells will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement. The data obtained will be compared to age matched patients with suspected PID.

Treatment:

Procedure: blood sampling