Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Status: Recruiting
Location: See all (2) locations...
Intervention Type: Procedure
Study Type: Observational
SUMMARY
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.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: t
View:
• Patient with suspected PID, healthy relative or healthy volunteer
• consent
Locations
Other Locations
Switzerland
University of Basel Children's Hospital
RECRUITING
Basel
Division of Immunology
RECRUITING
Zurich
Contact Information
Primary
Jana M Pachlopnik Schmid, MD PhD
jana.pachlopnik@kispi.uzh.ch
+41 44 266 73 11
Time Frame
Start Date: 2016-02
Estimated Completion Date: 2027-12
Participants
Target number of participants: 500
Treatments
patients with suspected PID
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.
healthy relatives of patients with PID
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.
Healthy volunteers
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.
Related Therapeutic Areas
Sponsors
Collaborators: University Hospital, Geneva, University Children's Hospital Basel
Leads: University Children's Hospital, Zurich