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231224s2014 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2014.09.003
|2 doi
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|a pubmed24n0806.xml
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|a (PII)S1521-6616(14)00214-9
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|a DE-627
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|e rakwb
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|a eng
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| 100 |
1 |
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|a Borte, Stephan
|e verfasserin
|4 aut
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| 245 |
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|a Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome
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|c 2014
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
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|2 rdamedia
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|a ƒa Online-Ressource
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|a Date Completed 26.01.2015
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|a Date Revised 02.11.2020
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2014 Elsevier Inc. All rights reserved.
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|a The lack or marked reduction of recently formed T and B cells provides a basis for neonatal screening for severe combined immunodeficiencies (SCID) and X-linked agammaglobulinemia (XLA). Newborns with other conditions are also identified if a severe T or B cell lymphopenia is present at birth. We retrospectively analyzed Guthrie card samples from 11 children with Wiskott-Aldrich syndrome (WAS), a rare disease that requires early diagnosis and treatment, to determine whether combined T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) screening could identify these patients. 4 of 11 patients showed markedly reduced TREC or KREC copy numbers in their DBS as compared to storage-time matched controls and prospectively screened Swedish and German newborns. No correlation was observed between the WAS gene mutations, the clinical severity/course and the result of the screening assay. A diagnosis of WAS should thus be considered in newborns with positive TREC or KREC screening results
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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|a Kappa-deleting recombination excision circles;
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|a Newborn screening;
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|a Severe combined immunodeficiency
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|a T cell receptor excision circles;
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| 650 |
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|a Wiskott–Aldrich syndrome;
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| 650 |
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|a DNA
|2 NLM
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|a 9007-49-2
|2 NLM
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| 700 |
1 |
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|a Fasth, Anders
|e verfasserin
|4 aut
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| 700 |
1 |
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|a von Döbeln, Ulrika
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Winiarski, Jacek
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Hammarström, Lennart
|e verfasserin
|4 aut
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| 773 |
0 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 155(2014), 1 vom: 22. Nov., Seite 74-78
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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|g volume:155
|g year:2014
|g number:1
|g day:22
|g month:11
|g pages:74-78
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|u http://dx.doi.org/10.1016/j.clim.2014.09.003
|3 Volltext
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