Cargando…

First Year of TREC-Based National SCID Screening in Sweden

Screening for severe combined immunodeficiency (SCID) was introduced into the Swedish newborn screening program in August 2019 and here we report the results of the first year. T cell receptor excision circles (TRECs), kappa-deleting element excision circles (KRECs), and actin beta (ACTB) levels wer...

Descripción completa

Detalles Bibliográficos
Autores principales:	Göngrich, Christina, Ekwall, Olov, Sundin, Mikael, Brodszki, Nicholas, Fasth, Anders, Marits, Per, Dysting, Sam, Jonsson, Susanne, Barbaro, Michela, Wedell, Anna, von Döbeln, Ulrika, Zetterström, Rolf H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395826/ https://www.ncbi.nlm.nih.gov/pubmed/34449549 http://dx.doi.org/10.3390/ijns7030059

Ejemplares similares

Case report: IKZF1-related early-onset CID is expected to be missed in TREC-based SCID screening but can be identified by determination of KREC levels
por: Äng, Christofer, et al.
Publicado: (2023)

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study
por: Barbaro, Michela, et al.
Publicado: (2016)

MCEE Mutations in an Adult Patient with Parkinson’s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid
por: Andréasson, Mattias, et al.
Publicado: (2019)

Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs
por: Framme, Jenny Lingman, et al.
Publicado: (2022)

Implementation of TREC/KREC detection protocol for newborn SCID screening in Bulgaria: a pilot study
por: Marinova, Marina, et al.
Publicado: (2023)

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data
por: Sörensen, Lene, et al.
Publicado: (2020)

Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report
por: Lundin, Karin E., et al.
Publicado: (2018)

Surge of immune cell formation at birth differs by mode of delivery and infant characteristics—A population-based cohort study
por: Schlinzig, Titus, et al.
Publicado: (2017)

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
por: Stranneheim, Henrik, et al.
Publicado: (2014)

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid
por: Freyer, Christoph, et al.
Publicado: (2015)

T Cell Receptor Excision Circle (TREC) Monitoring after Allogeneic Stem Cell Transplantation; a Predictive Marker for Complications and Clinical Outcome
por: Gaballa, Ahmed, et al.
Publicado: (2016)

Primary immunodeficiency in infection-prone children in southern Sweden: occurrence, clinical characteristics and immunological findings
por: Brodszki, Nicholas, et al.
Publicado: (2014)

TREC: Traceability of Radioactive Equipment at CERN
por: Kepinski, Maciej P, et al.
Publicado: (2013)

Serum-Infliximab Trough Levels in 45 Children with Inflammatory Bowel Disease on Maintenance Treatment
por: Rolandsdotter, Helena, et al.
Publicado: (2017)

Enhancing access to the Bibliome: the TREC 2004 Genomics Track
por: Hersh, William R, et al.
Publicado: (2006)

Predicting Human Age with Bloodstains by sjTREC Quantification
por: Ou, Xue-ling, et al.
Publicado: (2012)

TREC: Full Traceability of Radioactive Equipment and Related Processes
por: Almeida, Ricardo, et al.
Publicado: (2022)

TREC/KREC Levels in Young COVID-19 Patients
por: Khadzhieva, Maryam B., et al.
Publicado: (2021)

TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review
por: van der Spek, Jet, et al.
Publicado: (2015)

Placental Transfer of Maternally-Derived IgA Precludes the Use of Guthrie Card Eluates as a Screening Tool for Primary Immunodeficiency Diseases
por: Borte, Stephan, et al.
Publicado: (2012)

TREC-IN: gene knock-in genetic tool for genomes cloned in yeast
por: Chandran, Suchismita, et al.
Publicado: (2014)

Expanding TREC and KREC Utility in Primary Immunodeficiency Diseases Diagnosis
por: Korsunskiy, Ilya, et al.
Publicado: (2020)

Searching for scientific evidence in a pandemic: An overview of TREC-COVID
por: Roberts, Kirk, et al.
Publicado: (2021)

Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs
por: Hannelius, Ulf, et al.
Publicado: (2008)

The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome
por: Froňková, Eva, et al.
Publicado: (2014)

TReC: Transferred ResNet and CBAM for Detecting Brain Diseases
por: Xiao, Yuteng, et al.
Publicado: (2021)

Genetics of SCID
por: Cossu, Fausto
Publicado: (2010)

Epidemiology and clinical features of PFAPA: a retrospective cohort study of 336 patients in western Sweden
por: Rydenman, Karin, et al.
Publicado: (2022)

Reconciling Longitudinal Naive T-Cell and TREC Dynamics during HIV-1 Infection
por: Drylewicz, Julia, et al.
Publicado: (2016)

TREC and KREC Levels as a Predictors of Lymphocyte Subpopulations Measured by Flow Cytometry
por: Korsunskiy, Ilya, et al.
Publicado: (2019)

TREC-COVID: rationale and structure of an information retrieval shared task for COVID-19
por: Roberts, Kirk, et al.
Publicado: (2020)

Neonatal abstinence syndrome is a potential cause of low TREC copy number
por: Adatia, Adil, et al.
Publicado: (2021)

Importance of TREC and KREC as molecular markers for immunological evaluation of down syndrome children
por: Eissa, Eman, et al.
Publicado: (2023)

Exploring resveratrol dimers as virulence blocking agents – Attenuation of type III secretion in Yersinia pseudotuberculosis and Pseudomonas aeruginosa
por: Sundin, Charlotta, et al.
Publicado: (2020)

Esophageal perforation in South of Sweden: Results of surgical treatment in 125 consecutive patients
por: Hermansson, Michael, et al.
Publicado: (2010)

The TREC 2004 genomics track categorization task: classifying full text biomedical documents
por: Cohen, Aaron M, et al.
Publicado: (2006)

Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)
por: Patel, Jay P., et al.
Publicado: (2015)

Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases
por: Jilkina, O., et al.
Publicado: (2014)

Clinical significance of T cell receptor excision circle (TREC) quantitation after allogenic HSCT
por: Mikhael, Neveen Lewis, et al.
Publicado: (2019)

A comparative analysis of system features used in the TREC-COVID information retrieval challenge
por: Chen, Jimmy S., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_aku8u8sgpjkla24nq9o9c2g739