Literature DB >> 24332217

Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases.

Ruud H J Verstegen1, Stephan Borte2, Levinus A Bok3, Paul H Th van Zwieten4, Ulrika von Döbeln5, Lennart Hammarström6, Esther de Vries7.   

Abstract

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Year:  2013        PMID： 24332217     DOI： 10.1016/j.jaci.2013.10.010

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  10 in total

1.  Primary immunodeficiencies screening: neonatal screening for T/B cell disorders - a triplex PCR method for quantitation of TRECs and KRECs in newborns.

Authors:  L Hammarström
Journal:  Clin Exp Immunol       Date:  2014-12       Impact factor: 4.330

2.  Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.

Authors:  Jenny Lingman Framme; Stephan Borte; Ulrika von Döbeln; Lennart Hammarström; Sólveig Oskarsdóttir
Journal:  J Clin Immunol       Date:  2014-03-09       Impact factor: 8.317

Review 3.  Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.

Authors:  Soma Jyonouchi; Artemio M Jongco; Jennifer Puck; Kathleen E Sullivan
Journal:  J Clin Immunol       Date:  2017-03-28       Impact factor: 8.317

4.  Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype.

Authors:  Gabriel Skogberg; Vanja Lundberg; Susanne Lindgren; Judith Gudmundsdottir; Kerstin Sandström; Olle Kämpe; Göran Annerén; Jan Gustafsson; Jan Sunnegårdh; Sjoerd van der Post; Esbjörn Telemo; Martin Berglund; Olov Ekwall
Journal:  J Immunol       Date:  2014-07-18       Impact factor: 5.422

Review 5.  TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.

Authors:  Jet van der Spek; Rolf H H Groenwold; Mirjam van der Burg; Joris M van Montfrans
Journal:  J Clin Immunol       Date:  2015-04-17       Impact factor: 8.317

6.  Reduced numbers of switched memory B cells with high terminal differentiation potential in Down syndrome.

Authors:  Rita Carsetti; Diletta Valentini; Valentina Marcellini; Marco Scarsella; Emiliano Marasco; Ferruccio Giustini; Andrea Bartuli; Alberto Villani; Alberto G Ugazio
Journal:  Eur J Immunol       Date:  2014-12-28       Impact factor: 5.532

7.  Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.

Authors:  Michela Barbaro; Annika Ohlsson; Stephan Borte; Susanne Jonsson; Rolf H Zetterström; Jovanka King; Jacek Winiarski; Ulrika von Döbeln; Lennart Hammarström
Journal:  J Clin Immunol       Date:  2016-11-21       Impact factor: 8.317

8.  Dysregulated miR-155 and miR-125b Are Related to Impaired B-cell Responses in Down Syndrome.

Authors:  Chiara Farroni; Emiliano Marasco; Valentina Marcellini; Ezio Giorda; Diletta Valentini; Stefania Petrini; Valentina D'Oria; Marco Pezzullo; Simona Cascioli; Marco Scarsella; Alberto G Ugazio; Giovanni C De Vincentiis; Ola Grimsholm; Rita Carsetti
Journal:  Front Immunol       Date:  2018-11-20       Impact factor: 7.561

9.  Effects of Pidotimod on recurrent respiratory infections in children with Down syndrome: a retrospective Italian study.

Authors:  Diletta Valentini; Chiara Di Camillo; Nadia Mirante; Valentina Marcellini; Rita Carsetti; Alberto Villani
Journal:  Ital J Pediatr       Date:  2020-03-13       Impact factor: 2.638

10.  Quantification of T-Cell and B-Cell Replication History in Aging, Immunodeficiency, and Newborn Screening.

Authors:  Ruud H J Verstegen; Pei M Aui; Eliza Watson; Samuel De Jong; Sophinus J W Bartol; Julian J Bosco; Paul U Cameron; Robert G Stirling; Esther de Vries; Jacques J M van Dongen; Menno C van Zelm
Journal:  Front Immunol       Date:  2019-08-29       Impact factor: 7.561
  10 in total

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