TREC, KREC, and STELA analysis in adult PID
Research type
Research Study
Full title
Analysis and classification of a cohort of immunodeficiency patients by telomere length, T-receptor excision circle (TREC) and Kappa-deletion recombination excision circle (KREC) enumeration. New ways of risk profiling?
IRAS ID
217558
Contact name
Stephen Jolles
Contact email
Sponsor organisation
Cardiff and Vale University Health Board
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
The most frequent symptomatic primary immune deficiency in adults is common variable immunodeficiency (CVID) which has an estimated prevalence of 1 in 25,000, with diagnosis based on significantly reduced total immunoglobulin (antibody) levels, impaired response to vaccination, and the clinical sequelae of severe or recurrent infection. The cause of CVID remains unknown; single gene defects account for a minority of cases and phenotypic variation is wide. Symptoms may begin at any time of life. Long-term follow-up highlights the risks of dysregulated immunity extend beyond severe or recurrent infection, with autoimmunity and malignancy prominent. These features are closely resemble the sequelae of immune decline associated with the normal ageing process. Through examination of biomarkers for the production of new immune cells from the bone marrow and thymus and profiling the replicative history of peripheral blood lymphocytes using highly sensitive techniques, this research project aims to characterise markers of ageing of the immune system (immunosenesence) in patients with primary immunodeficiency.
REC name
London - Surrey Borders Research Ethics Committee
REC reference
17/LO/0078
Date of REC Opinion
12 Jan 2017
REC opinion
Further Information Favourable Opinion