Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Antonia Kwan,Roshini S. Abraham,Robert Currier,Amy Brower,Karen Andruszewski,Jordan K. Abbott,Mei W. Baker,Mark Ballow,Louis Bartoshesky,Francisco A. Bonilla,Charles D. Brokopp,Edward G. 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 Teresa de la Morena,Ulrich A. Duffner,Chin-To Fong,Lisa R. Forbes,Lisa R. Forbes,Debra Freedenberg,Erwin W. Gelfand,Jaime E. Hale,I. Celine Hanson,I. Celine Hanson,Beverly N. Hay,Diana Hu,Anthony J. Infante,Daisy Johnson,Neena Kapoor,Denise M. Kay,Donald B. Kohn,Rachel Lee,Heather K. Lehman,Zhili Lin,Fred Lorey,Aly Abdel-Mageed,Adrienne Manning,Sean A. McGhee,Sean A. McGhee,Theodore B. Moore,Stanley J. Naides,Luigi D. Notarangelo,Jordan S. Orange,Jordan S. Orange,Sung-Yun Pai,Matthew H. Porteus,Matthew H. Porteus,Ray Rodriguez,Neil Romberg,John M. Routes,Mary Ruehle,Arye Rubenstein,Carlos A. Saavedra-Matiz,Ginger Scott,Patricia M. Scott,Elizabeth Secord,Christine M. Seroogy,William T. Shearer,William T. Shearer,Subhadra Siegel,Stacy K. Silvers,E. Richard Stiehm,Robert W. Sugerman,John L. Sullivan,Susan Tanksley,Millard L. Tierce,James W. 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 +84 more
TLDR
Newborn screening in 11 programs in the United States identified SCID in 1 in 58,000 infants, with high survival, and the usefulness of detection of non-SCID T-cell lymphopenia by the same screening remains to be determined.Abstract:
The purpose of newborn screening is early detection of inborn conditions for which prompt treatments mitigate mortality or irreversible damage. The first heritable immune disorders to which newborn screening has been applied are those that together comprise severe combined immunodeficiency (SCID), caused by defects in any of a diverse group of gene products essential for development of adaptive immunity provided by T and B lymphocytes.1,2 A feature of all SCID is defective production of T cells. In most SCID, B cells are also defective, but even normal B cells cannot produce antibodies without T-cell help. Thus, infants with SCID are susceptible to life-threatening infections. Early detection and treatment optimize survival.3-5 Provided that SCID is diagnosed before infections become overwhelming, affected infants can be rescued with hematopoietic stem cell transplantation; gene therapy; or, for adenosine deaminase deficiency, enzyme replacement therapy.2,5-8
Population-based screening is the only means to detect SCID prior to the onset of infections in most cases, as more than 80% lack a positive family history.9,10 T-cell receptor excision circles (TRECs), a biomarker for T lymphopoiesis,11 can be measured by polymerase chain reaction (PCR) using DNA isolated from infant dried blood spots collected for newborn screening.9 Dried blood spots from apparently healthy newborns who were later diagnosed with SCID lacked TRECs.9 Confirmation of the utility of the TREC test,12 adaptation for pilot newborn screening programs in Wisconsin13 and Massachusetts,14 and an evidence-based review led to the recommendation by the US Department of Health and Human Services Secretary in 2010 that SCID be added to the Uniform Screening Panel for all newborns, with related T-cell deficiencies added to the list of secondary targets.15 Currently, 23 states, the District of Columbia, and the Navajo Nation screen approximately two-thirds of all infants born in the United States for SCID. Individual states have confirmed detection of SCID as well as additional disorders with low T-cell numbers, which also may benefit from further assessment of immune dysfunction and from protective treatments.13,16-18 Here we present the first combined analysis of more than 3 million infants screened for SCID in 10 states and the Navajo Nation, providing a population-based overview of SCID and non-SCID T-cell lymphopenia.read more
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Iconographies supplémentaires de l'article : Practice parameter for the diagnosis and management of primary immunodeficiency
Francisco A. Bonilla,David A. Khan,Zuhair K. Ballas,Javier Chinen,Michael M. Frank,Joyce T. Hsu,Michael D. Keller,Lisa Kobrynski,Hirsh D. Komarow,Bruce Mazer,Robert P. Nelson,Jordan S. Orange,John M. Routes,William T. Shearer,Ricardo U. Sorensen,James W. Verbsky,David I. Bernstein,Joann Blessing-Moore,David Lang,Richard A. Nicklas,John Oppenheimer,Jay M Portnoy,Christopher Randolph,Diane E. Schuller,Sheldon L. Spector,S. Tilles,Dana V. Wallace,D.A. Khan +27 more
TL;DR: This document incorporated the efforts of many participants, and no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters.
Journal ArticleDOI
Practice parameter for the diagnosis and management of primary immunodeficiency
Francisco A. Bonilla,D.A. Khan,Zuhair K. Ballas,Javier Chinen,Michael M. Frank,Joyce T. Hsu,Michael A. Keller,Lisa Kobrynski,Hirsh D. Komarow,Bruce Mazer,Robert P. Nelson,Jordan S. Orange,John M. Routes,William T. Shearer,Ricardo U. Sorensen,James W. Verbsky,David I. Bernstein,Joann Blessing-Moore,David M. Lang,Richard A. Nicklas,John Oppenheimer,Jay M. Portnoy,Christopher Randolph,Diane E. Schuller,Sheldon L. Spector,Stephen A. Tilles,Dana Wallace,David A. Khan +27 more
TL;DR: The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergies, asthma and immunology (ACAAI) have jointly accepted responsibility for establishing the "practice parameter for the diagnosis and management of primary immunodeficiency" as discussed by the authors.
Journal ArticleDOI
Current status of newborn screening worldwide: 2015
Bradford L. Therrell,Carmencita Padilla,Carmencita Padilla,J. Gerard Loeber,Issam Kneisser,Amal Saadallah,Gustavo J.C. Borrajo,John Adams +7 more
TL;DR: The world is divided into 5 regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), assessing the current NBS situation in each region and reviewing activities that have taken place in recent years.
Journal ArticleDOI
Assessing Genetic Risks: Implications for Health and Social Policy
TL;DR: In the future of all-conquering genetic technology, who should be screened for what and by whom?
Journal ArticleDOI
Transplantation Outcomes for Severe Combined Immunodeficiency 2000–2009
TL;DR: This was a retrospective study based on data entry into defined forms through the Primary Immune Deficiency Treatment Consortium to evaluate the outcome of hematopoietic stem cell transplantation in patients with severe combined immunodeficiency treated in North America between 2000 and 2009.
References
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Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
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William T. Shearer,Howard M. Rosenblatt,Rebecca Gelman,R Oyomopito,Susan Plaeger,E. Richard Stiehm,Diane W. Wara,Steven D. Douglas,Katherine Luzuriaga,Elizabeth J. McFarland,Ram Yogev,Mobeen H. Rathore,Wende Levy,Bobbie Graham,Stephen A. Spector +14 more
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Transplantation Outcomes for Severe Combined Immunodeficiency, 2000–2009
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 Fuleihan,Elie Haddad,Brett Loechelt,Victor M. Aquino,Alfred P. Gillio,Jeffrey H. Davis,Alan P. 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 +38 more
TL;DR: Transplants from donors other than matched siblings were associated with excellent survival among infants with SCID identified before the onset of infection.
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