Newborn screening for T-cell deficiency

@article{Chase2010NewbornSF,
  title={Newborn screening for T-cell deficiency},
  author={Nicole M. Chase and James Verbsky and John M Routes},
  journal={Current Opinion in Allergy and Clinical Immunology},
  year={2010},
  volume={10},
  pages={521–525}
}
Purpose of reviewNewborn screening for T-cell deficiency is ongoing in two states, and the published results of 1 year of screening in Wisconsin are favorable. In this review, the history, methodology, results, challenges, and future direction of screening are discussed. Recent findingsAs a concept, newborn blood screening (NBS) has evolved from the detection of elevated levels of phenylalanine on filter paper to the application of DNA-based technologies to identify T-cell lymphopenia in… 
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15 Citations
Background Citations
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15 Citations

Neonatal screening for severe combined immunodeficiency
  • J. Puck
  • Medicine
    Current opinion in pediatrics
  • 2011
TLDR
Routine screening of all newborns with the TREC test can achieve presymptomatic diagnosis of SCID and other disorders with T-cell lymphopenia, allowing prompt and effective treatment and leading to a better understanding of the spectrum of these disorders and how to manage them.
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.
  • J. Puck
  • Medicine
    The Journal of allergy and clinical immunology
  • 2012
Laboratory Technology for Population-based Screening for SCID in Neonates: The Winner Is T-cell Receptor Excision Circles (TRECs)
TLDR
Testing for the DNA biomarker of normal T cell development, T cell receptor excision circles (TRECs), has proven successful and TREC testing of newborns is now being performed in several states, indicating that this addition to the newborn screening panel can be successfully integrated into state public health programs.
The case for newborn screening for severe combined immunodeficiency and related disorders
  • J. Puck
  • Medicine
    Annals of the New York Academy of Sciences
  • 2011
TLDR
Early results of TREC testing of newborns in five states indicate that this addition to the newborn screening panel can be successfully integrated into state public health programs.
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies
TLDR
A novel flow cytometric panel for rapid assessment of DNA repair defects using blood samples was developed and identified a novel ATM-breaking chromosome 11 inversion in trans with a pathogenic indel (compound heterozygote) resulting in non-functional ATM protein, consistent with a diagnosis of AT.
Severe Combined Immunodeficiencies
Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots
TLDR
High-throughput Immuno-SRM peptide analysis represents a robust potential clinical diagnostic for identifying and studying PIDD patients from easily collected and shipped DBS and supports a significant potential for early PIDD diagnosis through newborn screening.
Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots
TLDR
Peptide immunoaffinity enrichment coupled with selected reaction monitoring mass spectrometry (immuno-SRM) is a sensitive proteomic assay, involving antibody-mediated peptide capture, that allows for concurrent quantification of multiple analytes that has promise for use in potential newborn screening of PIDDs that lead to diminished or absent target proteins in the majority of cases.
Severe Combined Immune Deficiency (SCID): Genetics
TLDR
Severe combined immunodeficiency consists of an array of genetically determined blocks in T-lymphocyte development that affect multiple steps of T lymphocytes ontogenesis, and SCID variants – defined by the presence of residual T cells – are relatively frequent as a consequence of hypomorphic mutation or reversion.
Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).
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