Literature DB >> 27139719

Newborn screening for SCID: lessons learned.

Becky J Buelow1, James W Verbsky1,2, John M Routes1,2.   

Abstract

INTRODUCTION: Newborn screening (NBS) for Severe combined immunodeficiency (SCID)/severe T cell lymphopenia (sTCL) is being increasingly used worldwide. AREAS COVERED: In this manuscript we will discuss the following: 1) The rationale for screening newborns for SCID/sTCL; 2) The scientific basis for the use of the T cell receptor excision circle (TREC) assay in screening newborns for SCID/sTCL; 3) The published outcomes of current NBS programs. Expert commentary: 4) Some of the ethical dilemmas that occur when screening newborns for SCID. Finally, we will discuss the future directions for expanding NBS to include other primary immunodeficiencies.

Entities:  

Keywords:  Newborn screening (NBS); T cell lymphopenia (TCL); T cell receptor excision circle (TREC); review; severe combined immunodeficiency (SCID)

Mesh：

Substances：

Year:  2016        PMID： 27139719     DOI： 10.1080/17474086.2016.1180243

Source DB:  PubMed          Journal:  Expert Rev Hematol        ISSN： 1747-4094            Impact factor:   2.929


  5 in total

1.  Idiopathic T cell lymphopenia identified in New York State Newborn Screening.

Authors:  Stephanie Albin-Leeds; Juliana Ochoa; Harshna Mehta; Beth H Vogel; Michele Caggana; Vincent Bonagura; Heather Lehman; Mark Ballow; Arye Rubinstein; Subhadra Siegel; Leonard Weiner; Geoffrey A Weinberg; Charlotte Cunningham-Rundles
Journal:  Clin Immunol       Date:  2017-07-08       Impact factor: 3.969

2.  SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.

Authors:  Lucila Akune Barreiros; Jusley Lira Sousa; Christoph Geier; Alexander Leiss-Piller; Marilia Pylles Patto Kanegae; Tábata Takahashi França; Bertrand Boisson; Alessandra Miramontes Lima; Beatriz Tavares Costa-Carvalho; Carolina Sanchez Aranda; Maria Isabel de Moraes-Pinto; Gesmar Rodrigues Silva Segundo; Janaira Fernandes Severo Ferreira; Fabíola Scancetti Tavares; Flávia Alice Timburiba de Medeiros Guimarães; Eliana Cristina Toledo; Ana Carolina da Matta Ain; Iramirton Figueirêdo Moreira; Gustavo Soldatelli; Anete Sevciovic Grumach; Mayra de Barros Dorna; Cristina Worm Weber; Regina Sumiko Watanabe Di Gesu; Vera Maria Dantas; Fátima Rodrigues Fernandes; Troy Robert Torgerson; Hans Dietrich Ochs; Jacinta Bustamante; Jolan Eszter Walter; Antonio Condino-Neto
Journal:  J Clin Immunol       Date:  2022-05-03       Impact factor: 8.542

3.  Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.

Authors:  Ashleigh R Pavey; Dale L Bodian; Thierry Vilboux; Alina Khromykh; Natalie S Hauser; Kathi Huddleston; Elisabeth Klein; Aaron Black; Megan S Kane; Ramaswamy K Iyer; John E Niederhuber; Benjamin D Solomon
Journal:  Genet Med       Date:  2017-06-15       Impact factor: 8.822

4.  Characterization of Infants with Idiopathic Transient and Persistent T Cell Lymphopenia Identified by Newborn Screening-a Single-Center Experience in New York State.

Authors:  Artemio M Jongco; Robert Sporter; Elise Hon; Omer Elshaigi; Shouling Zhang; Foysal Daian; Emily Bae; Amanda Innamorato; Catherine Capo; Brianne Navetta-Modrov; David W Rosenthal; Vincent R Bonagura
Journal:  J Clin Immunol       Date:  2021-01-07       Impact factor: 8.317

5.  A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes.

Authors:  Igor Ribeiro Ferreira; Régis Afonso Costa; Leonardo Henrique Ferreira Gomes; Wilton Darleans Dos Santos Cunha; Latife Salomão Tyszler; Silvia Freitas; Juan Clinton Llerena Junior; Zilton Farias Meira de Vasconcelos; Robert D Nicholls; Letícia da Cunha Guida
Journal:  Sci Rep       Date:  2020-08-03       Impact factor: 4.379
  5 in total

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