TY - JOUR
T1 - Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
AU - Martín Nalda, Andrea
AU - Rivière, Jacques G.
AU - Català-Besa, Mireia
AU - Garcia Prat, Marina
AU - Parra-Martínez, Alba
AU - Martínez Gallo, Mónica
AU - Colobrán Oriol, Roger
AU - Argudo-Ramírez, Ana
AU - Marín Soria, Jose Luis
AU - García Villoria, Judit
AU - Alonso, Laura
AU - Arranz Amo, Jose Antonio
AU - la Marca, Giancarlo
AU - Soler-Palacín, Pere
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - Purine nucleoside phosphorylase deficiency
KW - Severe combined immunodeficiency
KW - Newborn screening
KW - T-cell receptor excision circle
U2 - 10.3390/ijns7040062
DO - 10.3390/ijns7040062
M3 - Article
C2 - 34698070
SN - 2409-515X
VL - 7
JO - International Journal of Neonatal Screening
JF - International Journal of Neonatal Screening
ER -