Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening.
T-cell receptor excision circle
newborn screening
purine nucleoside phosphorylase deficiency
severe combined immunodeficiency
Journal
International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400
Informations de publication
Date de publication:
29 Sep 2021
29 Sep 2021
Historique:
received:
22
07
2021
revised:
27
08
2021
accepted:
24
09
2021
entrez:
26
10
2021
pubmed:
27
10
2021
medline:
27
10
2021
Statut:
epublish
Résumé
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis.
Identifiants
pubmed: 34698070
pii: ijns7040062
doi: 10.3390/ijns7040062
pmc: PMC8544499
pii:
doi:
Types de publication
Case Reports
Langues
eng
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