Newborn Screening for Severe Combined Immunodeficiency.

Humans Infant, Newborn Neonatal Screening Severe Combined Immunodeficiency / diagnosis
Newborn screening (NBS) Severe combined immunodeficiency (SCID) T-cell lymphopenia T-cell receptor excision circle (tREC)

Journal

Pediatric clinics of North America
ISSN: 1557-8240
Titre abrégé: Pediatr Clin North Am
Pays: United States
ID NLM: 0401126

Informations de publication

Date de publication:
10 2019
Historique:
entrez: 31 8 2019
pubmed: 31 8 2019
medline: 24 1 2020
Statut: ppublish

Résumé

The T-cell receptor excision circle (TREC) assay is an effective screening tool for severe combined immunodeficiency (SCID). The TREC assay was designed to detect typical SCID and leaky SCID, but any condition causing low naïve T-cell counts will also be detected. Newborn screening for SCID using the TREC assay has proven itself to be highly sensitive and cost-efficient. This review covers the history of SCID newborn screening, elaborates on the SCID subtypes and TREC assay limitations, and discusses diagnostic and management considerations for infants with a positive screen.

Identifiants

DOI: 10.1016/j.pcl.2019.06.007 PMID: 31466681
pubmed: 31466681
pii: S0031-3955(19)30089-6
doi: 10.1016/j.pcl.2019.06.007
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

913-923

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Auteurs

Mohammed Taki (M)

Department of Pediatrics, Children's Hospital of Michigan, 3901 Beaubien Street, Detroit, MI 48201, USA.

Tayaba Miah (T)

Department of Pediatrics, Children's Hospital of Michigan, 3901 Beaubien Street, Detroit, MI 48201, USA.

Elizabeth Secord (E)

Department of Allergy and Immunology, Children's Hospital of Michigan, 3901 Beaubien Street, Detroit, MI 48201, USA. Electronic address: Ae8701@wayne.edu.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Newborn Screening for Severe Combined Immunodeficiency.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Newborn Screening for Severe Combined Immunodeficiency.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Pratiques en santé publique › Dépistage de masse › Dépistage néonatal › Newborn Screening for Severe Combined Immunodeficiency.
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Immunodéficience combinée grave › Newborn Screening for Severe Combined Immunodeficiency.