Related Experiment Video

Updated: Jul 10, 2026

A Neonatal Imaging Model of Gram-Negative Bacterial Sepsis
08:46

A Neonatal Imaging Model of Gram-Negative Bacterial Sepsis

Published on: August 12, 2020

Neonatal screening for severe combined immune deficiency

Jennifer M Puck1

  • 1Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143-0519, USA. puckj@peds.ucsf.edu

Current Opinion in Allergy and Clinical Immunology
|November 9, 2007
PubMed

Insights

Newborn screening for severe combined immunodeficiency (SCID) is crucial for early detection and treatment. Advances in screening methods, like T cell receptor excision circles, are paving the way for pilot trials.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe combined immunodeficiency (SCID) is a serious genetic disorder affecting the immune system.
  • Early diagnosis and treatment are critical for improving outcomes in SCID patients.

Purpose of the Study:

  • To review the rationale for including SCID in newborn screening programs.
  • To outline current advancements and challenges in universal SCID screening.

Main Methods:

  • Review of existing literature on SCID screening.
  • Evaluation of T cell receptor excision circles (TRECs) as a screening biomarker.
  • Discussion of proposed and emerging screening methodologies.

Main Results:

  • SCID is treatable with hematopoietic stem cell transplantation, with outcomes improving significantly with early intervention.
  • Universal newborn screening can facilitate prompt diagnosis and timely treatment.
  • TREC quantitation on dried blood spots is a viable screening method, with other tests under evaluation.

Conclusions:

  • Newborn screening for SCID is progressing towards implementation in pilot programs.
  • Successful screening requires integrated systems for testing, diagnosis, treatment, and outcome tracking.
Abstract

More Related Videos

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR14:14

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

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 disorders...
Cytomegalovirus Disease01:27

Cytomegalovirus Disease

Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...