Newborn Screening for Severe Combined Immunodeficiency.

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

Journal

Immunology and allergy clinics of North America
ISSN: 1557-8607
Titre abrégé: Immunol Allergy Clin North Am
Pays: United States
ID NLM: 8805635

Informations de publication

Date de publication:
11 2021
Historique:
entrez: 4 10 2021
pubmed: 5 10 2021
medline: 4 11 2021
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.iac.2021.07.007 PMID: 34602227
pubmed: 34602227
pii: S0889-8561(21)00058-8
doi: 10.1016/j.iac.2021.07.007
pii:
doi:

Substances chimiques

Receptors, Antigen, T-Cell 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

543-553

Informations de copyright

Copyright © 2021 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 › Maladies du système immunitaire › Déficits immunitaires › Lymphopénie › 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 › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs immunologiques › Récepteurs aux antigènes › Récepteurs aux antigènes des cellules T › 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.