Literature DB >> 30133735

Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.

Jennifer M Puck.   

Abstract

Now widely adopted, SCID newborn screening has proven effective for early identification and treatment of SCID. In addition, screening has improved our understanding of SCID and related disorders, which are more diverse than originally believed. Newborn screening for SCID illustrates how adding new disorders to newborn screening panels can be enormously beneficial if evidence-based guidelines are adhered to and if mechanisms are in place to track outcomes and learn along the way. These lessons should guide all additions to newborn screening, including those involving sequencing.
© 2018 The Hastings Center.

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Year:  2018        PMID: 30133735      PMCID: PMC6886663          DOI: 10.1002/hast.875

Source DB:  PubMed          Journal:  Hastings Cent Rep        ISSN: 0093-0334            Impact factor:   2.683


  14 in total

1.  Severe combined immunodeficiency (SCID) and rotavirus vaccination: reports to the Vaccine Adverse Events Reporting System (VAERS).

Authors:  Nyasha Bakare; David Menschik; Rosemary Tiernan; Wei Hua; David Martin
Journal:  Vaccine       Date:  2010-07-30       Impact factor: 3.641

2.  Newborn screening for severe combined immunodeficiency; the Wisconsin experience (2008-2011).

Authors:  James W Verbsky; Mei W Baker; William J Grossman; Mary Hintermeyer; Trivikram Dasu; Benedetta Bonacci; Sreelatha Reddy; David Margolis; James Casper; Miranda Gries; Ken Desantes; Gary L Hoffman; Charles D Brokopp; Christine M Seroogy; John M Routes
Journal:  J Clin Immunol       Date:  2011-11-10       Impact factor: 8.317

3.  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

4.  Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival.

Authors:  Laurie A Myers; Dhavalkumar D Patel; Jennifer M Puck; Rebecca H Buckley
Journal:  Blood       Date:  2002-02-01       Impact factor: 22.113

5.  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

6.  Development of population-based newborn screening for severe combined immunodeficiency.

Authors:  Kee Chan; Jennifer M Puck
Journal:  J Allergy Clin Immunol       Date:  2005-02       Impact factor: 10.793

7.  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

8.  Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.

Authors:  William T Shearer; Elizabeth Dunn; Luigi D Notarangelo; Christopher C Dvorak; Jennifer M Puck; Brent R Logan; Linda M Griffith; Donald B Kohn; Richard J O'Reilly; Thomas A Fleisher; Sung-Yun Pai; Caridad A Martinez; Rebecca H Buckley; Morton J Cowan
Journal:  J Allergy Clin Immunol       Date:  2013-11-28       Impact factor: 10.793

9.  Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

Authors:  Sung-Yun Pai; Brent R Logan; Linda M Griffith; Rebecca H Buckley; Roberta E Parrott; Christopher C Dvorak; Neena Kapoor; Imelda C Hanson; Alexandra H Filipovich; Soma Jyonouchi; Kathleen E Sullivan; Trudy N Small; Lauri Burroughs; Suzanne Skoda-Smith; Ann E Haight; Audrey Grizzle; Michael A Pulsipher; Ka Wah Chan; Ramsay L Fuleihan; Elie Haddad; Brett Loechelt; Victor M Aquino; Alfred Gillio; Jeffrey Davis; Alan Knutsen; Angela R Smith; Theodore B Moore; Marlis L Schroeder; Frederick D Goldman; James A Connelly; Matthew H Porteus; Qun Xiang; William T Shearer; Thomas A Fleisher; Donald B Kohn; Jennifer M Puck; Luigi D Notarangelo; Morton J Cowan; Richard J O'Reilly
Journal:  N Engl J Med       Date:  2014-07-31       Impact factor: 91.245

10.  The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901.

Authors:  Christopher C Dvorak; Morton J Cowan; Brent R Logan; Luigi D Notarangelo; Linda M Griffith; Jennifer M Puck; Donald B Kohn; William T Shearer; Richard J O'Reilly; Thomas A Fleisher; Sung-Yun Pai; I Celine Hanson; Michael A Pulsipher; Ramsay Fuleihan; Alexandra Filipovich; Frederick Goldman; Neena Kapoor; Trudy Small; Angela Smith; Ka-Wah Chan; Geoff Cuvelier; Jennifer Heimall; Alan Knutsen; Brett Loechelt; Theodore Moore; Rebecca H Buckley
Journal:  J Clin Immunol       Date:  2013-07-02       Impact factor: 8.542

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  2 in total

1.  The effect of delayed and early diagnosis in siblings, and importance of newborn screening for SCID.

Authors:  Matthew S Krantz; Cosby A Stone; James A Connelly; Allison E Norton; Yasmin W Khan
Journal:  Ann Allergy Asthma Immunol       Date:  2018-11-12       Impact factor: 6.347

2.  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
  2 in total

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