Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.

Biomarkers / blood Cell-Free Nucleic Acids / blood DNA, Circular / blood Dried Blood Spot Testing / methods Early Diagnosis Female High-Throughput Nucleotide Sequencing / methods Humans Infant, Newborn Male Neonatal Screening / methods Prospective Studies Severe Combined Immunodeficiency / diagnosis
NGS - next generation sequencing SCID - severe combined immunodeficiency TREC analysis newborn SCID screening severe T-cell immunodeficiency

Journal

Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960

Informations de publication

Date de publication:
2020
Historique:
received: 24 03 2020
accepted: 02 06 2020
entrez: 6 8 2020
pubmed: 6 8 2020
medline: 7 4 2021
Statut: epublish

Résumé

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 same DBS DNA was introduced as part of our prospective pilot research project in 2015. With

Identifiants

DOI: 10.3389/fimmu.2020.01417 PMID: 32754152 PMC: PMC7381310
pubmed: 32754152
doi: 10.3389/fimmu.2020.01417
pmc: PMC7381310
doi:

Substances chimiques

Biomarkers 0
Cell-Free Nucleic Acids 0
DNA, Circular 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1417

Informations de copyright

Copyright © 2020 Strand, Gul, Erichsen, Lundman, Berge, Trømborg, Sørgjerd, Ytre-Arne, Hogner, Halsne, Gaup, Osnes, Kro, Sorte, Mørkrid, Rowe, Tangeraas, Jørgensen, Alme, Bjørndalen, Rønnestad, Lang, Rootwelt, Buechner, Øverland, Abrahamsen, Pettersen and Stray-Pedersen.

Références

Int J Neonatal Screen. 2017 Jun;3(2):
pubmed: 31304419
J Clin Invest. 2018 Jul 2;128(7):3071-3087
pubmed: 29889099
J Allergy Clin Immunol. 2016 Oct;138(4):1142-1151.e2
pubmed: 27484032
Virol J. 2015 Apr 14;12:60
pubmed: 25889596
J Formos Med Assoc. 2015 Jan;114(1):12-6
pubmed: 25618583
J Clin Immunol. 2018 Oct;38(7):778-786
pubmed: 30251145
J Immunol. 2002 Jun 15;168(12):6323-9
pubmed: 12055248
Int J Neonatal Screen. 2019 Nov 02;5(4):39
pubmed: 33072998
Front Immunol. 2019 Oct 22;10:2406
pubmed: 31695692
Hum Mutat. 2018 Jan;39(1):167-171
pubmed: 29067733
Arch Pathol Lab Med. 1999 Dec;123(12):1154-60
pubmed: 10583919
Semin Perinatol. 2015 Apr;39(3):194-205
pubmed: 25937517
J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):927-931
pubmed: 30030962
J Cyst Fibros. 2016 May;15(3):318-24
pubmed: 26795017
Front Genet. 2019 Feb 14;10:86
pubmed: 30838026
Clin Exp Immunol. 2004 Jul;137(1):179-86
pubmed: 15196260
Front Pediatr. 2019 Sep 18;7:373
pubmed: 31620409
J Clin Immunol. 2020 Jan;40(1):24-64
pubmed: 31953710
J Clin Immunol. 2000 Nov;20(6):477-85
pubmed: 11202238
J Clin Immunol. 2015 Feb;35(2):227-33
pubmed: 25677497
J Clin Immunol. 2014 Apr;34(3):289-303
pubmed: 24578017
Lancet. 2001 Feb 17;357(9255):513-8
pubmed: 11229670
Clin Immunol. 2017 Feb;175:51-55
pubmed: 27916705
Sci Transl Med. 2018 Aug 1;10(452):
pubmed: 30068569
J Allergy Clin Immunol. 2017 Mar;139(3):733-742
pubmed: 28270365
J Pediatr. 2016 Jun;173:235-7
pubmed: 26996725
Int J Neonatal Screen. 2018 Dec 12;4(4):40
pubmed: 33072960
Front Immunol. 2018 Apr 16;9:782
pubmed: 29713328
Clin Immunol. 2014 Nov;155(1):74-78
pubmed: 25217881
Eur J Paediatr Neurol. 2007 Nov;11(6):375-80
pubmed: 17540590
J Allergy Clin Immunol. 2017 Dec;140(6):1660-1670.e16
pubmed: 28400115
J Clin Immunol. 2015 May;35(4):416-30
pubmed: 25893636
Public Health Rep. 2010 May-Jun;125 Suppl 2:88-95
pubmed: 20518449
N Engl J Med. 2014 Jul 31;371(5):434-46
pubmed: 25075835
J Allergy Clin Immunol. 2014 Apr;133(4):1092-8
pubmed: 24290292
J Allergy Clin Immunol. 2017 Jan;139(1):232-245
pubmed: 27577878
Blood. 2017 Dec 21;130(25):2718-2727
pubmed: 29021228
JAMA. 2014 Aug 20;312(7):729-38
pubmed: 25138334
Front Immunol. 2019 Dec 20;10:2940
pubmed: 31921190
Pediatrics. 2017 Feb;139(2):
pubmed: 28096516
Clin Immunol. 2015 May;158(1):29-34
pubmed: 25762520
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Clin Immunol. 2019 May;202:33-39
pubmed: 30946917
Clin Immunol. 2017 Jul;180:106-110
pubmed: 28487086
Sci Rep. 2017 Dec 15;7(1):17641
pubmed: 29247206
Hum Mutat. 2010 Feb;31(2):197-207
pubmed: 19953608
J Clin Immunol. 2013 Apr;33(3):540-9
pubmed: 23264026
Leukemia. 2017 May;31(5):1221-1223
pubmed: 28096536
J Clin Immunol. 2017 Jan;37(1):51-60
pubmed: 27873105
JPEN J Parenter Enteral Nutr. 2018 Jan;42(1):239-246
pubmed: 29505141
J Pediatr. 2019 Oct;213:96-102.e2
pubmed: 31277900
Front Immunol. 2018 Dec 04;9:2756
pubmed: 30564228
Eur J Hum Genet. 1998 May-Jun;6(3):235-44
pubmed: 9781027
Front Immunol. 2018 Oct 29;9:2495
pubmed: 30420857
J Allergy Clin Immunol. 2019 Jul;144(1):339-342
pubmed: 30965037
Front Immunol. 2019 Aug 13;10:1908
pubmed: 31456805
J Allergy Clin Immunol Pract. 2019 Nov - Dec;7(8):2863-2865.e3
pubmed: 31326381
Isr Med Assoc J. 2013 Aug;15(8):404-9
pubmed: 24079059
J Clin Immunol. 2018 Jan;38(1):96-128
pubmed: 29226302
J Law Med Ethics. 2016 Jun;44(2):231-40
pubmed: 27338599
J Allergy Clin Immunol. 2013 Jul;132(1):140-50
pubmed: 23810098
J Clin Microbiol. 2005 Mar;43(3):1318-24
pubmed: 15750102
Front Immunol. 2017 Jul 24;8:807
pubmed: 28791007
Clin Exp Immunol. 2014 Dec;178(3):459-69
pubmed: 25046553
Clin Biochem. 2018 Feb;52:48-55
pubmed: 29111448
Lancet. 2000 May 27;355(9218):1875-81
pubmed: 10866444
Pediatrics. 2019 Feb;143(2):
pubmed: 30683812
Brief Bioinform. 2013 Mar;14(2):178-92
pubmed: 22517427
J Clin Virol. 2000 Sep 1;17(3):159-65
pubmed: 10996112

Auteurs

Janne Strand (J)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Kiran Aftab Gul (KA)

Paediatric Research Institute, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Hans Christian Erichsen (HC)

Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Division of Paediatric and Adolescent Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Emma Lundman (E)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Mona C Berge (MC)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Anette K Trømborg (AK)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Linda K Sørgjerd (LK)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Mari Ytre-Arne (M)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Silje Hogner (S)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Ruth Halsne (R)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Department of Forensic Biology, Oslo University Hospital, Oslo, Norway.

Hege Junita Gaup (HJ)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Liv T Osnes (LT)

Department of Immunology and Transfusion Medicine, Oslo University Hospital, Oslo, Norway.

Grete A B Kro (GAB)

Department of Microbiology, Oslo University Hospital, Oslo, Norway.

Hanne S Sorte (HS)

Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

Lars Mørkrid (L)

Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.

Alexander D Rowe (AD)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Trine Tangeraas (T)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Jens V Jørgensen (JV)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Charlotte Alme (C)

Department of Paediatric Haematology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Trude E H Bjørndalen (TEH)

Department of Obstetrics and Gynaecology, Oslo University Hospital, Oslo, Norway.

Arild E Rønnestad (AE)

Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Astri M Lang (AM)

Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Terje Rootwelt (T)

Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Division of Paediatric and Adolescent Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Jochen Buechner (J)

Department of Paediatric Haematology, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Torstein Øverland (T)

Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Tore G Abrahamsen (TG)

Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Division of Paediatric and Adolescent Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Rolf D Pettersen (RD)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Asbjørg Stray-Pedersen (A)

Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.

Articles similaires

Comprehensive comparative analysis and development of molecular markers for Lasianthus species based on complete chloroplast genome sequences.

Yue Zhang, Meifang Song, Deying Tang et al.
1.00
Genome, Chloroplast Phylogeny Genetic Markers Base Composition High-Throughput Nucleotide Sequencing

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Classifications MeSH

questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Second-Tier Next Generation Sequencing...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › Acides nucléiques acellulaires › Second-Tier Next Generation Sequencing...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Conformation d'acide nucléique › ADN circulaire › Second-Tier Next Generation Sequencing...
questionsmedicales.fr › Techniques d'investigation › Techniques de laboratoire clinique › Tests de chimie clinique › Analyse chimique du sang › Dépistage sur goutte de sang séché › Second-Tier Next Generation Sequencing...
questionsmedicales.fr › Diagnostic › Diagnostic précoce › Second-Tier Next Generation Sequencing...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Séquençage nucléotidique à haut débit › Second-Tier Next Generation Sequencing...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Second-Tier Next Generation Sequencing...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Second-Tier Next Generation Sequencing...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Pratiques en santé publique › Dépistage de masse › Dépistage néonatal › Second-Tier Next Generation Sequencing...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études prospectives › Second-Tier Next Generation Sequencing...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Immunodéficience combinée grave › Second-Tier Next Generation Sequencing...