Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
T cell lymphopenia
T cell receptor excision circle
hematopoietic cell transplantation
newborn screening
primary immunodeficiency
severe combined immunodeficiency
Journal
Immunological reviews
ISSN: 1600-065X
Titre abrégé: Immunol Rev
Pays: England
ID NLM: 7702118
Informations de publication
Date de publication:
01 2019
01 2019
Historique:
received:
09
11
2018
accepted:
10
11
2018
entrez:
20
12
2018
pubmed:
20
12
2018
medline:
4
12
2019
Statut:
ppublish
Résumé
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure. Upon being flagged by an abnormal screening test in a SCID screening program, an infant can receive further diagnostic testing for SCID in the neonatal period, prior to onset of infectious complications, to permit immediate institution of protective measures and definitive, life-saving treatment to establish a functional immune system. SCID screening is now the accepted standard of care in state public health departments across the United States, and it is being adopted in many countries. It has proven effective, with infants having this otherwise inapparent but serious, rare disorder achieving survival and immune reconstitution. In addition to bringing to attention infants with the primary screening target diseases, typical SCID and leaky SCID (due to hypomorphic mutations in known SCID genes), the NBS assay for insufficient TRECs in DBS also reveals infants with non-SCID T lymphopenic conditions. Experience has accumulated regarding the range and limitations of diagnoses of newborns with low TRECs and low T cells. Previously unknown immune defects have been discovered, as well as conditions not formerly recognized to have low T cells in the neonatal period.
Identifiants
pubmed: 30565242
doi: 10.1111/imr.12729
pmc: PMC6324582
mid: NIHMS997857
doi:
Substances chimiques
Receptors, Antigen, T-Cell
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
241-252Subventions
Organisme : NIAID NIH HHS
ID : R01 AI105776
Pays : United States
Organisme : NIAID NIH HHS
ID : U54 AI082973
Pays : United States
Informations de copyright
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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