Establishing Simultaneous T Cell Receptor Excision Circles (TREC) and K-Deleting Recombination Excision Circles (KREC) Quantification Assays and Laboratory Reference Intervals in Healthy Individuals of Different Age Groups in Hong Kong

Autor: Pamela Pui Wah Lee, Stephen Kwok Fan Cheung, Ivan Wing-Hong Tang, Yee-Man Lau, Daniel K. L. Cheuk, Patrick Ip, Eric Y. S. Leung, P Chu, Janette Kwok, Jenny C. Y. Ho, Vincent Lee
Jazyk: angličtina
Rok vydání: 2020
Předmět:
0301 basic medicine
Oncology
Male
lcsh:Immunologic diseases. Allergy
medicine.medical_specialty
Adolescent
T-Lymphocytes
Immunology
primary immunodeficiency
03 medical and health sciences
0302 clinical medicine
Neonatal Screening
Reference Values
Internal medicine
medicine
Immunology and Allergy
Humans
Child
Original Research
Newborn screening
Severe combined immunodeficiency
B-Lymphocytes
K-deleting recombination excision circles
T-cell receptor excision circles
business.industry
Infant
Newborn
Infant
Retrospective cohort study
immune reconstitution
reference interval
medicine.disease
Healthy Volunteers
Reference intervals
Transplantation
030104 developmental biology
medicine.anatomical_structure
Child
Preschool
T cell receptor excision circles
Primary immunodeficiency
Hong Kong
Female
Severe Combined Immunodeficiency
Bone marrow
DNA
Circular
business
lcsh:RC581-607
Biomarkers
030215 immunology
Zdroj: Frontiers in Immunology
Frontiers in Immunology, Vol 11 (2020)
ISSN: 1664-3224
Popis: The clinical experience gathered throughout the years has raised awareness of primary immunodeficiency diseases (PIDD). T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) assays for thymic and bone marrow outputs measurement have been widely implemented in newborn screening (NBS) programs for Severe Combined Immunodeficiency. The potential applications of combined TREC and KREC assay in PIDD diagnosis and immune reconstitution monitoring in non-neonatal patients have been suggested. Given that ethnicity, gender, and age can contribute to variations in immunity, defining the reference intervals of TREC and KREC levels in the local population is crucial for setting up cut-offs for PIDD diagnosis. In this retrospective study, 479 healthy Chinese sibling donors (240 males and 239 females; age range: 1 month-74 years) from Hong Kong were tested for TREC and KREC levels using a simultaneous quantitative real-time PCR assay. Age-specific 5th-95th percentile reference intervals of TREC and KREC levels (expressed in copies per μL blood and copies per 106 cells) were established in both pediatric and adult age groups. Significant inverse correlations between age and both TREC and KREC levels were observed in the pediatric age group. A significant higher KREC level was observed in females than males after 9-12 years of age but not for TREC. Low TREC or KREC levels were detected in patients diagnosed with mild or severe PIDD. This assay with the established local reference intervals would allow accurate diagnosis of PIDD, and potentially monitoring immune reconstitution following haematopoietic stem cell transplantation or highly active anti-retroviral therapy in the future.
Databáze: OpenAIRE
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