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

T Cell Activation and Clonal Selection01:22

T Cell Activation and Clonal Selection

3.6K
T cells are integral to our adaptive immune system, recognizing and effectively responding to foreign antigens. T cell activation and clonal selection are pivotal in orchestrating this immune response. This article elucidates these mechanisms, detailing the roles of cluster of differentiation (CD) markers, major histocompatibility complex (MHC) molecules, costimulatory signals, and the process of clonal selection.
Naive T cells that have not yet encountered an antigen express two primary CD...
3.6K
Karyotyping01:17

Karyotyping

62.3K
Overview
62.3K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

7.9K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
7.9K

You might also read

Related Articles

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

Sort by
Same author

Surgical outcomes in neonates and infants with congenital choledochal malformation: analysis of the Pediatric Health Information System (PHIS) database.

Pediatric surgery international·2026
Same author

Adherence to Health Behavior Recommendations among Youth with Obesity Classes I, II, and III.

Childhood obesity (Print)·2026
Same author

Outcomes of laparoscopic orchiopexy for intra-abdominal testis: A single institutional experience.

Journal of pediatric surgery·2025
Same author

NT-pro Brain Natriuretic Peptide in Infants with Single Ventricle Heart Disease in the CHAMP® Multi-site Registry.

Pediatric cardiology·2025
Same author

Incidence of probiotic sepsis and morbidity risk in premature infants: a meta-analysis.

Pediatric research·2025
Same author

Acute high-intensity exercise enhances T cell proliferation compared to moderate-intensity exercise.

Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme·2025

Related Experiment Video

Updated: Sep 2, 2025

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

81.7K

T Cell Transcriptome in Chromosome 22q11.2 Deletion Syndrome.

Nikita R Raje1,2, Janelle R Noel-MacDonnell2,3, Katherine A Shortt4

  • 1Division of Allergy, Immunology, Pulmonary and Sleep Medicine, Children's Mercy Kansas City, Kansas City, MO; nraje@cmh.edu.

Journal of Immunology (Baltimore, Md. : 1950)
|August 8, 2022
PubMed
Summary
This summary is machine-generated.

Gene expression in T cells differs in chromosome 22q11.2 deletion syndrome (22qDS), impacting immune function. Specific gene pathways, including the liver X receptor/retinoid X receptor pathway, are altered in 22qDS patients with low T cell counts.

More Related Videos

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling
09:08

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

Published on: October 14, 2021

5.6K
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.7K

Related Experiment Videos

Last Updated: Sep 2, 2025

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

81.7K
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling
09:08

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

Published on: October 14, 2021

5.6K
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.7K

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Chromosome 22q11.2 deletion syndrome (22qDS) presents with varied phenotypes, partly due to T cell lymphopenia linked to thymic hypoplasia.
  • The genetic basis for T cell lymphopenia in 22qDS remains unclear, with no known correlation to genotype or deletion size.

Purpose of the Study:

  • To investigate differential gene expression in T cells from individuals with and without 22qDS.
  • To compare gene expression between 22qDS patients with low versus normal T cell counts.

Main Methods:

  • Peripheral blood T cells were isolated from 22qDS patients (n=13) and healthy controls (n=6), aged 5-8 years.
  • RNA sequencing was performed to identify differentially expressed genes.
  • Gene expression was analyzed between 22qDS subgroups: low T cell count (n=7) and normal T cell count (n=6).

Main Results:

  • 360 genes were differentially expressed between 22qDS patients and controls (q < 0.05).
  • 94 genes were differentially expressed between 22qDS patients with low versus normal T cell counts (q < 0.05).
  • Twenty-nine genes showed strong correlation (R ≥ 0.8) with T cell counts and specific immune markers (CD3, CD4, CD8, CD45RA+CD4).
  • Enriched pathways suggest impaired T cell communication with the innate immune system in 22qDS, notably the liver X receptor/retinoid X receptor pathway.

Conclusions:

  • Significant gene expression differences exist in T cells of 22qDS patients compared to controls.
  • Distinct gene expression profiles are observed in 22qDS patients with low T cell counts.
  • Altered T cell immune responses and communication pathways, particularly the LXR/RXR pathway, may contribute to 22qDS pathophysiology.