Literature DB >> 22244594

The Wisconsin approach to newborn screening for severe combined immunodeficiency.

James Verbsky1, Monica Thakar, John Routes.   

Abstract

Severe combined immunodeficiency (SCID) is a life-threatening disease of infants that is curable with hematopoietic cell transplantation if detected early. Population-based screening for SCID using the T-cell receptor excision circle (TREC) assay began in Wisconsin in 2008; 5 infants with SCID or other forms of severe T-cell lymphopenia (TCL) have been detected, and no infants with SCID have been missed. This review will provide an overview of the TREC screening assay and an update of the findings from Wisconsin on all infants screened from January 1, 2008, until December 31, 2010. Importantly, we give practical recommendations regarding newborn population-based screening using the TREC assay, including the evaluation and care of infants detected.
Copyright © 2012 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.

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Year:  2012        PMID： 22244594     DOI： 10.1016/j.jaci.2011.12.004

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


  21 in total

1.  Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects.

Authors:  George S Amatuni; Stanley Sciortino; Robert J Currier; Stanley J Naides; Joseph A Church; Jennifer M Puck
Journal:  J Allergy Clin Immunol       Date:  2019-06-18       Impact factor: 10.793

Review 2.  Laboratory diagnosis of primary immunodeficiencies.

Authors:  Bradley A Locke; Trivikram Dasu; James W Verbsky
Journal:  Clin Rev Allergy Immunol       Date:  2014-04       Impact factor: 8.667

3.  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

4.  Successful newborn screening for SCID in the Navajo Nation.

Authors:  Antonia Kwan; Diana Hu; Miran Song; Heidi Gomes; Denise R Brown; Trudy Bourque; Diana Gonzalez-Espinosa; Zhili Lin; Morton J Cowan; Jennifer M Puck
Journal:  Clin Immunol       Date:  2015-03-08       Impact factor: 3.969

5.  Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples.

Authors:  Divya Punwani; Diana Gonzalez-Espinosa; Anne Marie Comeau; Amalia Dutra; Evgenia Pak; Jennifer Puck
Journal:  Mol Genet Metab       Date:  2012-09-21       Impact factor: 4.797

6.  Newborn screening for SCID in New York State: experience from the first two years.

Authors:  Beth H Vogel; Vincent Bonagura; Geoffrey A Weinberg; Mark Ballow; Jason Isabelle; Lisa DiAntonio; April Parker; Allison Young; Charlotte Cunningham-Rundles; Chin-To Fong; Jocelyn Celestin; Heather Lehman; Arye Rubinstein; Subhadra Siegel; Leonard Weiner; Carlos Saavedra-Matiz; Denise M Kay; Michele Caggana
Journal:  J Clin Immunol       Date:  2014-03-01       Impact factor: 8.317

7.  Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.

Authors:  Antonia Kwan; Joseph A Church; Morton J Cowan; Rajni Agarwal; Neena Kapoor; Donald B Kohn; David B Lewis; Sean A McGhee; Theodore B Moore; E Richard Stiehm; Matthew Porteus; Constantino P Aznar; Robert Currier; Fred Lorey; Jennifer M Puck
Journal:  J Allergy Clin Immunol       Date:  2013-07       Impact factor: 10.793

Review 8.  Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency.

Authors:  Shradha Agarwal; Lloyd Mayer
Journal:  Clin Gastroenterol Hepatol       Date:  2013-03-13       Impact factor: 11.382

Review 9.  The case for mandatory newborn screening for severe combined immunodeficiency (SCID).

Authors:  H B Gaspar; L Hammarström; N Mahlaoui; M Borte; S Borte
Journal:  J Clin Immunol       Date:  2014-04-02       Impact factor: 8.317

Review 10.  Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).

Authors:  Annely M Richardson; Ann M Moyer; Linda Hasadsri; Roshini S Abraham
Journal:  Curr Allergy Asthma Rep       Date:  2018-02-22       Impact factor: 4.806
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