Related Experiment Video

Updated: Feb 25, 2026

Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
14:14

Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR

Published on: December 6, 2014

17.4K

Severe combined immunodeficiency: From its discovery to the perspective

Hirokazu Kanegane1, Kohsuke Imai2, Tomohiro Morio1

  • 1Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU).

Nihon Rinsho Men'Eki Gakkai Kaishi = Japanese Journal of Clinical Immunology
|July 28, 2017
PubMed

Insights

Severe combined immunodeficiency (SCID) is a life-threatening condition where infants lack a functional immune system. Newborn screening using T-cell receptor excision circles (TRECs) quantification can enable early detection and improve survival rates.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe combined immunodeficiency (SCID) impairs lymphocyte development, leading to fatal infections in infants without prompt treatment.
  • SCID affects approximately 1 in 50,000 live births and is caused by various genetic defects.
  • Hematopoietic stem cell transplantation (HSCT) has been a treatment for SCID since 1968.

Purpose of the Study:

  • To highlight the importance of early detection of SCID in infants.
  • To introduce newborn screening (NBS) for SCID as a method for early intervention.
  • To emphasize the utility of T-cell receptor excision circles (TRECs) quantification for SCID NBS.

Main Methods:

  • Quantification of T-cell receptor excision circles (TRECs) using quantitative PCR.
  • TRECs are measured from DNA samples, such as Guthrie cards.
  • TRECs are circular DNA fragments generated during T-cell receptor rearrangement.

Main Results:

  • SCID patients characteristically lack TRECs.
  • TRECs quantification is a reliable method for SCID newborn screening.
  • NBS for SCID is implemented in most of the United States.

Conclusions:

  • Early detection of SCID through NBS significantly increases survival rates.
  • Implementing TRECs quantification for NBS in Japan is crucial to save affected children.
  • Advancing SCID diagnosis and treatment through newborn screening is essential for improving pediatric health outcomes.

Keywords:
common γ chaingene therapyhematopoietic stem cell transplantationnewborn screeningsevere combined immunodeficiency

More Related Videos

Author Spotlight: Advancing Immune Monitoring in Critical Care Patients Using Whole Blood Assays06:03

Author Spotlight: Advancing Immune Monitoring in Critical Care Patients Using Whole Blood Assays

Published on: September 20, 2024

1.9K
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling09:08

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

6.4K

Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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.
There are three main causes of immunodeficiency...
2.6K
Development of Immunocompetence01:22

Development of Immunocompetence

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.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
1.0K
Special Features of Adaptive Immunity01:20

Special Features of Adaptive Immunity

The adaptive immune system, a crucial component of the overall immune response, offers a highly specialized defense against pathogens. It involves specific cell types and features, enabling it to combat infections effectively and efficiently.
The primary cell types involved in adaptive immunity are T cells and B cells. Each type has a unique role in defending the body against pathogens. T cells are responsible for cell-mediated immunity. They identify and eliminate infected cells directly,...
3.7K
Cell-mediated Immune Responses01:40

Cell-mediated Immune Responses

Overview
84.8K
Antigens Involved in Adaptive Immunity01:26

Antigens Involved in Adaptive Immunity

An antigen is any substance the immune system identifies as foreign and potentially harmful to the body, prompting an immune response. Antigens have two functional properties: immunogenicity and reactivity. Immunogenicity is the ability of an antigen to stimulate a specific immune response. At the same time, reactivity describes the antigen's ability to react with the cells and antibodies produced in response to it.
Complete Antigens
Complete antigens possess both immunogenicity and...
1.7K
Immunological Memory01:23

Immunological Memory

Immunological memory, a pivotal pillar of the adaptive immune system, is responsible for the body's ability to remember and respond more swiftly and effectively to previously encountered pathogens. This remarkable feature is what makes vaccines so effective in preventing diseases.
What is Immunological Memory?
Immunological memory is an integral function of the immune system that allows it to recognize and react more rapidly and effectively to pathogens previously encountered. This feature...
17.4K