Literature DB >> 33551023

SCID newborn screening: What we've learned.

Robert Currier1, Jennifer M Puck2.   

Abstract

Newborn screening for severe combined immunodeficiency, the most profound form of primary immune system defects, has long been recognized as a measure that would decrease morbidity and improve outcomes by helping patients avoid devastating infections and receive prompt immune-restoring therapy. The T-cell receptor excision circle test, developed in 2005, proved to be successful in pilot studies starting in the period 2008 to 2010, and by 2019 all states in the United States had adopted versions of it in their public health programs. Introduction of newborn screening for severe combined immunodeficiency, the first immune disorder accepted for population-based screening, has drastically changed the presentation of this disorder while providing important lessons for public health programs, immunologists, and transplanters.
Copyright © 2020 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Primary immunodeficiency; T-cell receptor excision circle (TREC); dried blood spot; lymphopenia; newborn screening; severe combined immunodeficiency (SCID)

Mesh:

Year:  2021        PMID: 33551023      PMCID: PMC7874439          DOI: 10.1016/j.jaci.2020.10.020

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN: 0091-6749            Impact factor:   14.290


  57 in total

Review 1.  The long quest for neonatal screening for severe combined immunodeficiency.

Authors:  Rebecca H Buckley
Journal:  J Allergy Clin Immunol       Date:  2012-01-24       Impact factor: 10.793

2.  Early vs. delayed diagnosis of severe combined immunodeficiency: a family perspective survey.

Authors:  Alice Chan; Christopher Scalchunes; Marcia Boyle; Jennifer M Puck
Journal:  Clin Immunol       Date:  2010-10-28       Impact factor: 3.969

3.  Profound T-cell lymphopenia associated with prenatal exposure to purine antagonists detected by TREC newborn screening.

Authors:  Caroline Y Kuo; Maria I Garcia-Lloret; Patricia Slev; John F Bohnsack; Karin Chen
Journal:  J Allergy Clin Immunol Pract       Date:  2017 Jan - Feb

4.  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

5.  Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.

Authors:  Majed Dasouki; Kingsley C Okonkwo; Abhishek Ray; Caspian K Folmsbeel; Diana Gozales; Sevgi Keles; Jennifer M Puck; Talal Chatila
Journal:  Clin Immunol       Date:  2011-06-21       Impact factor: 3.969

6.  SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery.

Authors:  Elie Haddad; Brent R Logan; Linda M Griffith; Rebecca H Buckley; Roberta E Parrott; Susan E Prockop; Trudy N Small; Jessica Chaisson; Christopher C Dvorak; Megan Murnane; Neena Kapoor; Hisham Abdel-Azim; Imelda C Hanson; Caridad Martinez; Jack J H Bleesing; Sharat Chandra; Angela R Smith; Matthew E Cavanaugh; Soma Jyonouchi; Kathleen E Sullivan; Lauri Burroughs; Suzanne Skoda-Smith; Ann E Haight; Audrey G Tumlin; Troy C Quigg; Candace Taylor; Blachy J Dávila Saldaña; Michael D Keller; Christine M Seroogy; Kenneth B Desantes; Aleksandra Petrovic; Jennifer W Leiding; David C Shyr; Hélène Decaluwe; Pierre Teira; Alfred P Gillio; Alan P Knutsen; Theodore B Moore; Morris Kletzel; John A Craddock; Victor Aquino; Jeffrey H Davis; Lolie C Yu; Geoffrey D E Cuvelier; Jeffrey J Bednarski; Frederick D Goldman; Elizabeth M Kang; Evan Shereck; Matthew H Porteus; James A Connelly; Thomas A Fleisher; Harry L Malech; William T Shearer; Paul Szabolcs; Monica S Thakar; Mark T Vander Lugt; Jennifer Heimall; Ziyan Yin; Michael A Pulsipher; Sung-Yun Pai; Donald B Kohn; Jennifer M Puck; Morton J Cowan; Richard J O'Reilly; Luigi D Notarangelo
Journal:  Blood       Date:  2018-08-28       Impact factor: 22.113

7.  Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations.

Authors:  Johannes Trück; Seraina Prader; Giancarlo Natalucci; Cornelia Hagmann; Barbara Brotschi; Janet Kelly; Dirk Bassler; Katharina Steindl; Anita Rauch; Matthias Baumgartner; Ralph Fingerhut; Mathias Hauri-Hohl; Tayfun Güngör; Jana Pachlopnik Schmid; Christoph Berger; Janine Reichenbach
Journal:  Swiss Med Wkly       Date:  2020-06-24       Impact factor: 2.193

8.  Immunologic features of Cornelia de Lange syndrome.

Authors:  Soma Jyonouchi; Jordan Orange; Kathleen E Sullivan; Ian Krantz; Matthew Deardorff
Journal:  Pediatrics       Date:  2013-07-01       Impact factor: 7.124

9.  Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Authors:  Antonia Kwan; Roshini S Abraham; Robert Currier; Amy Brower; Karen Andruszewski; Jordan K Abbott; Mei Baker; Mark Ballow; Louis E Bartoshesky; Francisco A Bonilla; Charles Brokopp; Edward Brooks; Michele Caggana; Jocelyn Celestin; Joseph A Church; Anne Marie Comeau; James A Connelly; Morton J Cowan; Charlotte Cunningham-Rundles; Trivikram Dasu; Nina Dave; Maria T De La Morena; Ulrich Duffner; Chin-To Fong; Lisa Forbes; Debra Freedenberg; Erwin W Gelfand; Jaime E Hale; I Celine Hanson; Beverly N Hay; Diana Hu; Anthony Infante; Daisy Johnson; Neena Kapoor; Denise M Kay; Donald B Kohn; Rachel Lee; Heather Lehman; Zhili Lin; Fred Lorey; Aly Abdel-Mageed; Adrienne Manning; Sean McGhee; Theodore B Moore; Stanley J Naides; Luigi D Notarangelo; Jordan S Orange; Sung-Yun Pai; Matthew Porteus; Ray Rodriguez; Neil Romberg; John Routes; Mary Ruehle; Arye Rubenstein; Carlos A Saavedra-Matiz; Ginger Scott; Patricia M Scott; Elizabeth Secord; Christine Seroogy; William T Shearer; Subhadra Siegel; Stacy K Silvers; E Richard Stiehm; Robert W Sugerman; John L Sullivan; Susan Tanksley; Millard L Tierce; James Verbsky; Beth Vogel; Rosalyn Walker; Kelly Walkovich; Jolan E Walter; Richard L Wasserman; Michael S Watson; Geoffrey A Weinberg; Leonard B Weiner; Heather Wood; Anne B Yates; Jennifer M Puck; Vincent R Bonagura
Journal:  JAMA       Date:  2014-08-20       Impact factor: 56.272

10.  First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).

Authors:  Ana Argudo-Ramírez; Andrea Martín-Nalda; Jose L Marín-Soria; Rosa M López-Galera; Sonia Pajares-García; Jose M González de Aledo-Castillo; Mónica Martínez-Gallo; Marina García-Prat; Roger Colobran; Jacques G Riviere; Yania Quintero; Tatiana Collado; Judit García-Villoria; Antonia Ribes; Pere Soler-Palacín
Journal:  Front Immunol       Date:  2019-10-22       Impact factor: 7.561

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  6 in total

1.  Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs.

Authors:  Lynn Bush; Hannah Davidson; Shani Gelles; Dawn Lea; Laura M Koehly
Journal:  Int J Neonatal Screen       Date:  2022-05-23

Review 2.  Establishing Newborn Screening for SCID in the USA; Experience in California.

Authors:  Jennifer M Puck; Andrew R Gennery
Journal:  Int J Neonatal Screen       Date:  2021-10-31

3.  Management of Inborn Errors of Immunity in the Genomic Era.

Authors:  Doğa Damla Demir; Kosar Asnaashari; Nima Rezaei; Ahmet Özen
Journal:  Turk Arch Pediatr       Date:  2022-03

4.  Investigation of the causal etiology in a patient with T-B+NK+ immunodeficiency.

Authors:  Robert Sertori; Jian-Xin Lin; Esteban Martinez; Sadhna Rana; Andrew Sharo; Majid Kazemian; Uma Sunderam; Mark Andrake; Susan Shinton; Billy Truong; Roland M Dunbrack; Chengyu Liu; Rajgopol Srinivasan; Steven E Brenner; Christine M Seroogy; Jennifer M Puck; Warren J Leonard; David L Wiest
Journal:  Front Immunol       Date:  2022-07-29       Impact factor: 8.786

5.  Pneumonia and Related Conditions in Critically Ill Patients-Insights from Basic and Experimental Studies.

Authors:  Darya A Kashatnikova; Maryam B Khadzhieva; Dmitry S Kolobkov; Olesya B Belopolskaya; Tamara V Smelaya; Alesya S Gracheva; Ekaterina V Kalinina; Sergey S Larin; Artem N Kuzovlev; Lyubov E Salnikova
Journal:  Int J Mol Sci       Date:  2022-08-31       Impact factor: 6.208

6.  Staphylococcus lugdunensis Bacteremia with an Infected Aortic Thrombus in a Preterm Infant.

Authors:  Srinivasan Mani; Praveen Chandrasekharan
Journal:  Children (Basel)       Date:  2022-01-02
  6 in total

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