Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) with an amplicon based targeted gene panel using the...
Main Authors: | Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Emma Lundman, Mona C. Berge, Anette K. Trømborg, Linda K. Sørgjerd, Mari Ytre-Arne, Silje Hogner, Ruth Halsne, Hege Junita Gaup, Liv T. Osnes, Grete A. B. Kro, Hanne S. Sorte, Lars Mørkrid, Alexander D. Rowe, Trine Tangeraas, Jens V. Jørgensen, Charlotte Alme, Trude E. H. Bjørndalen, Arild E. Rønnestad, Astri M. Lang, Terje Rootwelt, Jochen Buechner, Torstein Øverland, Tore G. Abrahamsen, Rolf D. Pettersen, Asbjørg Stray-Pedersen |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2020-07-01
|
Series: | Frontiers in Immunology |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fimmu.2020.01417/full |
Similar Items
-
Comparison of Genetically Engineered Immunodeficient Animal Models for Nonclinical Testing of Stem Cell Therapies
by: Yoon-Young Kim, et al.
Published: (2021-01-01) -
CD3ε+ Cells in Pigs With Severe Combined Immunodeficiency Due to Defects in ARTEMIS
by: Adeline N. Boettcher, et al.
Published: (2020-03-01) -
A Novel Homozygous JAK3 Mutation Leading to T-B+NK– SCID in Two Brazilian Patients
by: Lucila A. Barreiros, et al.
Published: (2018-08-01) -
Corrigendum: A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients
by: Lucila A. Barreiros, et al.
Published: (2018-11-01) -
Novel Engraftment and T Cell Differentiation of Human Hematopoietic Cells in ART−/−IL2RG−/Y SCID Pigs
by: Adeline N. Boettcher, et al.
Published: (2020-02-01)