Genotyping in patients with primary immunodeficiency
Research type
Research Study
Full title
Genotyping in patients with primary immunodeficiency
IRAS ID
217444
Contact name
William Rae
Contact email
Sponsor organisation
University Hospital Southampton NHSFT
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Primary immunodeficiency diseases are rare inherited conditions effecting the immune system of patients. They carry a significant morbidity and mortality for patients. We will perform genetic analysis of 212 genes already known to cause primary immunodeficiency in participants.
Many of these tests are currently unavailable within the NHS, therefore this is being conducted as a research project until these tests and methodologies can be translated into the routine NHS care pathway for patients. Mounting evidence indicates that knowledge of the genetic cause of a patients immunodeficiency improves patient care and treatment options.
REC name
South Central - Hampshire A Research Ethics Committee
REC reference
16/SC/0674
Date of REC Opinion
21 Dec 2016
REC opinion
Unfavourable Opinion