Universal Newborn Screening for Severe Combined Immunodeficiency (SCID).

T lymphocytes allogeneic hematopoietic stem cell transplantation newborn screening public health severe combined immunodeficiency

Journal

Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492

Informations de publication

Date de publication:
2019
Historique:
received: 27 07 2019
accepted: 30 08 2019
entrez: 18 10 2019
pubmed: 18 10 2019
medline: 18 10 2019
Statut: epublish

Résumé

Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with allogeneic hematopoietic stem cell transplantation. Universal newborn screening for SCID, using an assay to detect T-cell receptor excision circles (TREC) in dried blood spots (DBS), is now being performed in all states in the United States. In this review, we discuss the development and outcomes of TREC screening, and continued challenges to implementation.

Identifiants

pubmed: 31620409
doi: 10.3389/fped.2019.00373
pmc: PMC6759820
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

373

Informations de copyright

Copyright © 2019 van der Burg, Mahlaoui, Gaspar and Pai.

Références

Immunol Res. 2007;38(1-3):64-7
pubmed: 17917011
N Engl J Med. 2014 Jul 31;371(5):434-46
pubmed: 25075835
Pediatrics. 2017 Feb;139(2):
pubmed: 28096516
J Exp Med. 2007 Mar 19;204(3):645-55
pubmed: 17312005
Clin Immunol. 2019 May;202:33-39
pubmed: 30946917
Blood Adv. 2017 Sep 05;1(20):1694-1698
pubmed: 29296816
Blood. 2011 Mar 17;117(11):3243-6
pubmed: 21273302
J Clin Immunol. 2017 Jan;37(1):51-60
pubmed: 27873105
Lancet. 2003 Feb 15;361(9357):553-60
pubmed: 12598139
J Clin Immunol. 2018 Jan;38(1):96-128
pubmed: 29226302
J Allergy Clin Immunol. 2016 Aug;138(2):375-85
pubmed: 27262745
J Allergy Clin Immunol. 2010 Nov;126(5):1073-4
pubmed: 20933257
Blood. 2018 Oct 25;132(17):1737-1749
pubmed: 30154114
Eur J Pediatr. 2019 May;178(5):721-729
pubmed: 30805731
JAMA. 2009 Dec 9;302(22):2465-70
pubmed: 19996402
Clin Infect Dis. 2016 Oct 1;63(7):929-936
pubmed: 27313267
Int J Neonatal Screen. 2018 Dec 12;4(4):40
pubmed: 33072960
Pediatrics. 1963 Sep;32:338-43
pubmed: 14063511
Front Immunol. 2018 Apr 16;9:782
pubmed: 29713328
J Allergy Clin Immunol. 2005 Feb;115(2):391-8
pubmed: 15696101
Blood. 2017 Dec 21;130(25):2718-2727
pubmed: 29021228
Blood. 2002 Feb 1;99(3):872-8
pubmed: 11806989
JAMA. 2014 Aug 20;312(7):729-38
pubmed: 25138334
Pediatr Allergy Immunol. 2016 Feb;27(1):70-7
pubmed: 26498110
J Allergy Clin Immunol. 2011 Jul;128(1):223-225.e2
pubmed: 21397315
J Clin Immunol. 2018 Jan;38(1):56-66
pubmed: 29116556
J Clin Immunol. 2018 Oct;38(7):778-786
pubmed: 30251145
Annu Rev Immunol. 2004;22:625-55
pubmed: 15032591
Curr Allergy Asthma Rep. 2018 May 10;18(6):34
pubmed: 29749587
Pediatrics. 2019 Feb;143(2):
pubmed: 30683812
J Allergy Clin Immunol. 2010 Sep;126(3):602-10.e1-11
pubmed: 20673987

Auteurs

Mirjam van der Burg (M)

Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands.

Nizar Mahlaoui (N)

Centre de Référence Déficits Immunitaires Héréditaires, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.

Hubert Bobby Gaspar (HB)

Molecular and Cellular Immunology, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Sung-Yun Pai (SY)

Division of Hematology-Oncology, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.
Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, United States.
Department of Pediatrics, Harvard Medical School, Boston, MA, United States.

Classifications MeSH