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Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Sponsor: University Children's Hospital, Zurich
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.
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
500
Start Date
2016-02
Completion Date
2027-12
Last Updated
2024-01-18
Healthy Volunteers
Yes
Conditions
Interventions
blood sampling and skin biopsy
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.
blood sampling or mouth swap
specimen will be used for genetic testing, results compared to patients
blood sampling
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.
Locations (2)
Division of Immunology
Zurich, Canton of Zurich, Switzerland
University of Basel Children's Hospital
Basel, Switzerland