Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Viral Recombination00:57

Viral Recombination

22.2K
Cells are sometimes infected by more than one virus at once. When two viruses disassemble to expose their genomes for replication in the same cell, similar regions of their genomes can pair together and exchange sequences in a process called recombination. Alternatively, viruses with segmented genomes can swap segments in a process called reassortment.
22.2K
Humoral Immune Responses01:36

Humoral Immune Responses

65.9K
Overview
65.9K
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

5.1K
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
5.1K
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

3.5K
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...
3.5K
Pulmonary Tuberculosis I01:29

Pulmonary Tuberculosis I

1.7K
Tuberculosis, often called TB, is a contagious illness primarily caused by Mycobacterium tuberculosis. It mainly affects the lung parenchyma but can also impact other body parts.
Causative Organism
The primary infectious agent causing tuberculosis is Mycobacterium tuberculosis, a slow-growing, acid-fast, aerobic rod that exhibits sensitivity to heat and ultraviolet light. Instances of Mycobacterium bovis and Mycobacterium avium contributing to the development of TB infection are rare.
Mode of...
1.7K
Cytomegalovirus Disease01:27

Cytomegalovirus Disease

100
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...
100

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Newborn screening reduces survival disparities in SCID after stem cell transplant: A PIDTC report.

Journal of human immunity·2026
Same author

Outcomes following matched sibling donor transplantation for severe combined immunodeficiency: a report from the PIDTC.

Blood advances·2025
Same author

Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.

Journal of clinical immunology·2024
Same author

Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.

The Journal of allergy and clinical immunology·2023
Same author

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.

Lancet (London, England)·2023
Same author

Safety and Efficacy of Hizentra® Following Pediatric Hematopoietic Cell Transplant for Treatment of Primary Immunodeficiencies.

Journal of clinical immunology·2023

Related Experiment Video

Updated: Apr 28, 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

16.3K

The multiple causes of human SCID.

Rebecca H Buckley1

  • 1Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA. buckL003@mc.duke.edu

The Journal of Clinical Investigation
|November 17, 2004
PubMed
Summary

Severe Combined Immunodeficiency (SCID) can be caused by mutations affecting immune system components. A new study reveals that a complete deficiency in the CD3epsilon chain of the T cell receptor complex causes human SCID.

Area of Science:

  • Immunology
  • Genetics

Background:

  • Severe Combined Immunodeficiency (SCID) is a group of rare genetic disorders characterized by the absence of functional T cells and adaptive immunity.
  • SCID can arise from mutations in various genes crucial for immune system development and function, including those encoding cytokine receptor chains, antigen receptor components, metabolic enzymes like adenosine deaminase, and cell surface markers like CD45.

Purpose of the Study:

  • To investigate the genetic basis of SCID in a patient with a complete deficiency in the CD3epsilon chain.
  • To elucidate the role of the CD3epsilon chain in T cell development and adaptive immunity.

Main Methods:

  • Genetic analysis to identify mutations in the gene encoding the CD3epsilon chain.
  • Immunophenotyping to assess T cell populations and function.

More Related Videos

Humanized NOD/SCID/IL2rγnull (hu-NSG) Mouse Model for HIV Replication and Latency Studies
07:10

Humanized NOD/SCID/IL2rγnull (hu-NSG) Mouse Model for HIV Replication and Latency Studies

Published on: January 7, 2019

14.1K
Chronic, Acute, and Reactivated HIV Infection in Humanized Immunodeficient Mouse Models
09:54

Chronic, Acute, and Reactivated HIV Infection in Humanized Immunodeficient Mouse Models

Published on: December 3, 2019

9.4K

Related Experiment Videos

Last Updated: Apr 28, 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

16.3K
Humanized NOD/SCID/IL2rγnull (hu-NSG) Mouse Model for HIV Replication and Latency Studies
07:10

Humanized NOD/SCID/IL2rγnull (hu-NSG) Mouse Model for HIV Replication and Latency Studies

Published on: January 7, 2019

14.1K
Chronic, Acute, and Reactivated HIV Infection in Humanized Immunodeficient Mouse Models
09:54

Chronic, Acute, and Reactivated HIV Infection in Humanized Immunodeficient Mouse Models

Published on: December 3, 2019

9.4K
  • Analysis of the T cell receptor/CD3 complex assembly and signaling.

    • Main Results:

    • The study identified a complete deficiency of the CD3epsilon chain in a patient with SCID.
    • This deficiency resulted in the absence of T cells and impaired adaptive immunity.
    • The T cell receptor/CD3 complex assembly and downstream signaling were severely affected.

    Conclusions:

    • Complete deficiency of the CD3epsilon chain is a cause of human SCID.
    • The CD3epsilon chain is essential for T cell receptor assembly, T cell development, and the establishment of adaptive immunity.