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American Academy of Pediatrics
Article

Newborn Screening for Severe Combined Immunodeficiency

David A. Randolph, John M. Routes and James W. Verbsky
NeoReviews September 2013, 14 (9) e448-e455; DOI: https://doi.org/10.1542/neo.14-9-e448
David A. Randolph
*Division of Neonatology, Rocky Mountain Hospital for Children at Presbyterian/St. Luke's Medical Center, Denver, CO.
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John M. Routes
†Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI.
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James W. Verbsky
†Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI.
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Abstract

Severe combined immunodeficiency (SCID) is a rare disorder that is lethal in childhood if not diagnosed and treated properly. Recently, a number of states have begun neonatal screening programs for SCID to facilitate diagnosis and improve outcomes. Here we review the pathogenesis and treatment of SCID. We also review the rationale for statewide screening programs, the molecular basis for the screening test, and discuss the experience to date of statewide screening in Wisconsin, the first state to implement such a program.

  • Abbreviations:
    ADA;
    adenosine deaminase
    HLA;
    human leukocyte antigen
    IL;
    interleukin
    MHC;
    major histocompatibility complex
    PCR;
    polymerase chain reaction
    SCID;
    severe combined immunodeficiency
    TCR;
    T-cell receptor
    TREC;
    T-cell receptor excision circle
    • Copyright © 2013 by the American Academy of Pediatrics

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    NeoReviews
    Vol. 14, Issue 9
    1 Sep 2013
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    Newborn Screening for Severe Combined Immunodeficiency
    David A. Randolph, John M. Routes, James W. Verbsky
    NeoReviews Sep 2013, 14 (9) e448-e455; DOI: 10.1542/neo.14-9-e448

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    Newborn Screening for Severe Combined Immunodeficiency
    David A. Randolph, John M. Routes, James W. Verbsky
    NeoReviews Sep 2013, 14 (9) e448-e455; DOI: 10.1542/neo.14-9-e448
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    • Table of Contents

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    • Article
      • Abstract
      • Educational Gap
      • Objectives
      • Introduction
      • T-Cell Development
      • Clinical Presentation
      • Therapy for Severe Combined Immunodeficiency
      • The Rationale for Severe Combined Immunodeficiency Screening
      • The T-Cell Receptor Excision Circle Assay
      • The Wisconsin Experience
      • Current Status of Severe Combined Immunodeficiency Screening in the United States
      • Footnotes
      • References
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    • Comments
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