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Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases  Ruud H.J. Verstegen, MD, Stephan.

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Presentation on theme: "Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases  Ruud H.J. Verstegen, MD, Stephan."— Presentation transcript:

1 Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases  Ruud H.J. Verstegen, MD, Stephan Borte, MD, Levinus A. Bok, MD, Paul H.Th. van Zwieten, MD, Ulrika von Döbeln, MD, PhD, Lennart Hammarström, MD, PhD, Esther de Vries, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 133, Issue 4, Pages (April 2014) DOI: /j.jaci Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 A, TREC and KREC copy numbers in DBSS from newborns with Down syndrome, storage-time–matched controls, and healthy newborns. Lines represent different applicable cutoff values.2 B, Relative expression of chromosome 21 and 22q11 marker genes in DBSS from healthy newborns, children with Down syndrome, and children with 22q11 deletion syndrome. ***Mann-Whitney test P < .001; ****Paired t test P < Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2013 American Academy of Allergy, Asthma & Immunology Terms and Conditions


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