Full Text Available
Note: Clicking the button above will open the full text document at the original institutional repository in a new window.
Establishing an in-house real-time polymerase chain reaction assay to quantify T-cell receptor excision circles and kappa-deleting recombination excision circles for use in screening newborn babies for inborn errors of immunity
Dissertation (MSc (Medical Immunology))--University of Pretoria, 2024.
Saved in:
| Other Authors: | |
|---|---|
| Format: | Thesis |
| Language: | English |
| Published: |
University of Pretoria
2025
|
| Subjects: | |
| Tags: |
No Tags, Be the first to tag this record!
|
| _version_ | 1867613520139386880 |
|---|---|
| access_status_str | Open Access |
| author2 | Kwofie, Luyanda Laura Illicia |
| author_browse | Kwofie, Luyanda Laura Illicia |
| author_facet | Kwofie, Luyanda Laura Illicia |
| collection | Thesis |
| dc_rights_str_mv | © 2023 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. |
| description | Dissertation (MSc (Medical Immunology))--University of Pretoria, 2024. |
| format | Thesis |
| id | oai:repository.up.ac.za:2263/100933 |
| institution | University of Pretoria (South Africa) |
| language | English |
| last_indexed | 2026-06-10T12:37:27.084Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UPSpace — University of Pretoria Institutional Repository |
| publishDate | 2025 |
| publishDateRange | 2025 |
| publishDateSort | 2025 |
| publisher | University of Pretoria |
| publisherStr | University of Pretoria |
| record_format | dspace |
| source_str | UPSpace — University of Pretoria Institutional Repository |
| spelling | oai:repository.up.ac.za:2263/100933 Establishing an in-house real-time polymerase chain reaction assay to quantify T-cell receptor excision circles and kappa-deleting recombination excision circles for use in screening newborn babies for inborn errors of immunity Kwofie, Luyanda Laura Illicia sharsingo@gmail.com Worsley, Catherine M. Meyer, Pieter Willem Adriaan Singo, Shudufhadzo Sharon UCTD Sustainable Development Goals (SDGs) Dried blood spot (DBS) Inborn errors of immunity (IEI) Kappa-deleting recombination excision circles (KREC) Real-time polymerase chain reaction (real-time PCR) T-cell receptor excision circles (TREC) Dissertation (MSc (Medical Immunology))--University of Pretoria, 2024. Inborn errors of immunity (IEI) are genetic disorders that hinder immune responses and are underdiagnosed, particularly in low-to-middle income countries. These disorders occur in one in every 500 live births. Early detection is crucial for preventing health complications. The need for early detection of IEI has led to the development of newborn screening (NBS) programmes; however, many countries lack routine NBS due to financial and technological challenges. The present study aimed to develop an in-house screening technique for T-cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) quantification using real-time polymerase chain reaction (PCR) to screen for IEI in newborn babies. We developed an in-house real-time PCR technique to detect and quantify TREC and KREC in human immunodeficiency virus (HIV)-exposed uninfected (HEU) and HIV-unexposed uninfected (HUU) neonates, using dried blood spot (DBS) samples collected and preserved as part of the Siyakhula study cohort. Deoxyribonucleic acid (DNA) was extracted from DBS samples, and TREC and KREC genes were simultaneously detected using a newly developed real-time PCR technique. Results revealed that HUU infants had statistically significant higher TREC concentrations (P-value = 0.006) than HEU infants, however, no significant difference in KREC concentrations were noted between the two cohorts. Statistical significance was determined by a P-value <0.05. These results indicate reduced TREC levels in immunologically vulnerable babies (HEU). The TREC and KREC assays showed significant potential as biomarkers for IEI screening. Importantly, the simultaneous detection and quantification of TREC/KREC is a cost-effective method for IEI screening. National Research Foundation (NRF) Immunology MSc (Medical Immunology) Unrestricted Faculty of Health Sciences SDG-03: Good health and well-being 2025-02-14T12:56:50Z 2025-02-14T12:56:50Z 2025-04 2024-12 Dissertation * A2025 http://hdl.handle.net/2263/100933 https://doi.org/10.25403/UPresearchdata.28262906 https://doi.org/10.25403/UPresearchdata.28262906 en © 2023 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. application/pdf University of Pretoria |
| spellingShingle | UCTD Sustainable Development Goals (SDGs) Dried blood spot (DBS) Inborn errors of immunity (IEI) Kappa-deleting recombination excision circles (KREC) Real-time polymerase chain reaction (real-time PCR) T-cell receptor excision circles (TREC) Establishing an in-house real-time polymerase chain reaction assay to quantify T-cell receptor excision circles and kappa-deleting recombination excision circles for use in screening newborn babies for inborn errors of immunity |
| title | Establishing an in-house real-time polymerase chain reaction assay to quantify T-cell receptor excision circles and kappa-deleting recombination excision circles for use in screening newborn babies for inborn errors of immunity |
| title_full | Establishing an in-house real-time polymerase chain reaction assay to quantify T-cell receptor excision circles and kappa-deleting recombination excision circles for use in screening newborn babies for inborn errors of immunity |
| title_fullStr | Establishing an in-house real-time polymerase chain reaction assay to quantify T-cell receptor excision circles and kappa-deleting recombination excision circles for use in screening newborn babies for inborn errors of immunity |
| title_full_unstemmed | Establishing an in-house real-time polymerase chain reaction assay to quantify T-cell receptor excision circles and kappa-deleting recombination excision circles for use in screening newborn babies for inborn errors of immunity |
| title_short | Establishing an in-house real-time polymerase chain reaction assay to quantify T-cell receptor excision circles and kappa-deleting recombination excision circles for use in screening newborn babies for inborn errors of immunity |
| title_sort | establishing an in house real time polymerase chain reaction assay to quantify t cell receptor excision circles and kappa deleting recombination excision circles for use in screening newborn babies for inborn errors of immunity |
| topic | UCTD Sustainable Development Goals (SDGs) Dried blood spot (DBS) Inborn errors of immunity (IEI) Kappa-deleting recombination excision circles (KREC) Real-time polymerase chain reaction (real-time PCR) T-cell receptor excision circles (TREC) |
| url | http://hdl.handle.net/2263/100933 https://doi.org/10.25403/UPresearchdata.28262906 https://doi.org/10.25403/UPresearchdata.28262906 |