RecruitingNCT02735824

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


Sponsor

University Children's Hospital, Zurich

Enrollment

500 participants

Start Date

Feb 1, 2016

Study Type

OBSERVATIONAL

Conditions

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

Inclusion Criteria2

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

Exclusion Criteria1

  • none

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Interventions

PROCEDUREblood 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.

PROCEDUREblood sampling or mouth swap

specimen will be used for genetic testing, results compared to patients

PROCEDUREblood 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

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NCT02735824


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