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Related Concept Videos

Immunodeficiency Diseases01:25

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Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
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The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
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Newborn Screening for Severe Combined Immunodeficiency.

Mohammed Taki1, Tayaba Miah1, Elizabeth Secord2

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Immunology and Allergy Clinics of North America
|October 4, 2021
PubMed
Summary

The T-cell receptor excision circle (TREC) assay is a sensitive and cost-effective newborn screening tool for severe combined immunodeficiency (SCID). It detects SCID and other conditions causing low T-cell counts, guiding diagnosis and management.

Keywords:
Newborn screening (NBS)Severe combined immunodeficiency (SCID)T-cell lymphopeniaT-cell receptor excision circle (tREC)

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe combined immunodeficiency (SCID) is a group of rare genetic disorders.
  • Early detection and treatment of SCID are crucial for infant survival.
  • The T-cell receptor excision circle (TREC) assay has emerged as a key screening method.

Purpose of the Study:

  • To review the history and evolution of SCID newborn screening.
  • To elaborate on SCID subtypes and the limitations of the TREC assay.
  • To discuss the diagnostic and management strategies for infants identified through newborn screening.

Main Methods:

  • Review of existing literature on SCID, TREC assay, and newborn screening protocols.
  • Analysis of the sensitivity and cost-effectiveness of the TREC assay.
  • Discussion of diagnostic criteria and treatment approaches for SCID.

Main Results:

  • The TREC assay is a highly sensitive and cost-efficient tool for SCID screening.
  • The assay can detect typical SCID, leaky SCID, and other conditions with low naive T-cell counts.
  • Newborn screening for SCID using TREC assays has significantly improved early detection rates.

Conclusions:

  • The TREC assay is an effective initial screening tool for SCID in newborns.
  • Understanding TREC assay limitations and SCID subtypes is vital for accurate diagnosis.
  • Prompt diagnostic workup and management are essential for infants with positive TREC screens.