Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

Background: Screening newborns for severe combined immunodeficiency (SCID) has become essential, since efficient methods to identify infants with these disorders exist and early stem cell transplantation is life-saving. Method: We performed a three-year screening trial in Stockholm comprised of 89,4...

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Bibliographic Details
Main Authors: Rolf H. Zetterström, Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström
Format: Article
Language:English
Published: MDPI AG 2017-05-01
Series:International Journal of Neonatal Screening
Subjects:
severe combined immunodeficiency (SCID)
primary immune deficiencies (PID)
T-cell receptor excision circle (TREC)
kappa-deleting recombination excision circle (KREC)
newborn screening
neonatal screening
azathioprine
tacrolimus
Bruton
inborn errors of metabolism
Online Access:http://www.mdpi.com/2409-515X/3/2/11

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http://www.mdpi.com/2409-515X/3/2/11

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