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

Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

64.5K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.5K
Viral Mutations00:36

Viral Mutations

39.9K
A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Mutations01:39

Mutations

94.5K
Overview
94.5K
Mutations01:35

Mutations

44.6K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.6K
Gene Flow02:39

Gene Flow

38.0K
Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.
38.0K
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

2.4K
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...
2.4K

You might also read

Related Articles

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

Sort by
Same author

[Experience in emergency response to 2019-nCoV positive cases in an international test competition].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi·2022
Same author

[Analysis of curative effects of chemoembolization with drug-loaded microspheres of different particle sizes for the treatment of hepatocellular carcinoma].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology·2022
Same author

[Effect and mechanism of TNF-α and etanercept on the invasion ability of extravillous trophoblast cell in URSA patients].

Zhonghua fu chan ke za zhi·2021
Same author

Molecular mechanisms of MCM3AP-AS1 targeted the regulation of miR-708-5p on cell proliferation and apoptosis in gastric cancer cells.

European review for medical and pharmacological sciences·2021
Same author

Cognitive Frailty and Falls in a National Cohort of Older Chinese Inpatients.

The journal of nutrition, health & aging·2021
Same author

Incidence and risk factors of female urinary incontinence: a 4-year longitudinal study among 24 985 adult women in China.

BJOG : an international journal of obstetrics and gynaecology·2021

Related Experiment Video

Updated: Feb 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.5K

[De novo NFκB2 gene mutation associated common variable immunodeficiency].

M Z Luo1, T Xu, X H Xue

  • 1Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Infection and Immunity, Chongqing 400014, China.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics
|August 6, 2018
PubMed
Summary

Nuclear factor kappa-B subunit 2 (NFκB2) gene mutations cause common variable immunodeficiency (CVID), leading to recurrent infections and immune cell dysfunction. Early consideration of NFκB2 mutations is crucial for patients with hypogammaglobulinemia and immune deficiencies.

Keywords:
Adrenocorticotrophic hormoneGenesImmunologic deficiency syndrome

More Related Videos

In Vivo Gene Transfer to the Rabbit Common Carotid Artery Endothelium
10:18

In Vivo Gene Transfer to the Rabbit Common Carotid Artery Endothelium

Published on: May 6, 2018

9.7K
Leveraging CyVerse Resources for De Novo Comparative Transcriptomics of Underserved Non-model Organisms
10:41

Leveraging CyVerse Resources for De Novo Comparative Transcriptomics of Underserved Non-model Organisms

Published on: May 9, 2017

9.6K

Related Experiment Videos

Last Updated: Feb 7, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.5K
In Vivo Gene Transfer to the Rabbit Common Carotid Artery Endothelium
10:18

In Vivo Gene Transfer to the Rabbit Common Carotid Artery Endothelium

Published on: May 6, 2018

9.7K
Leveraging CyVerse Resources for De Novo Comparative Transcriptomics of Underserved Non-model Organisms
10:41

Leveraging CyVerse Resources for De Novo Comparative Transcriptomics of Underserved Non-model Organisms

Published on: May 9, 2017

9.6K

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by hypogammaglobulinemia and impaired B-cell differentiation.
  • The nuclear factor kappa-B subunit 2 (NFκB2) pathway is critical for immune cell development and function.
  • Mutations in NFκB2 can lead to severe immune dysregulation.

Observation:

  • A 14-month-old boy presented with recurrent pneumonia and otitis media, alongside significantly low immunoglobulin levels (IgG, IgA, IgM).
  • Immunological analysis revealed altered T-cell subsets, reduced switched memory B cells and plasmablasts, and impaired natural killer (NK) cell cytotoxicity.
  • Whole-exome sequencing identified a de novo heterozygous nonsense mutation (c.2557C>T; p. Arg853X) in the NFκB2 gene, confirming decreased NF-κB2 (p52) protein expression.

Findings:

  • The NFκB2 mutation resulted in impaired T and B lymphocyte differentiation and reduced NK-cell cytotoxic activity.
  • A review of 28 cases, including this patient, highlighted respiratory infections, autoimmune diseases, and adrenocorticotrophic hormone (ACTH) deficiency as common manifestations.
  • Specific mutation types, including nonsense, missense, and frameshift, were associated with varying degrees of immune deficiency.

Implications:

  • NFκB2 mutations are a significant cause of CVID, impacting multiple aspects of the immune system.
  • Clinical suspicion of NFκB2 mutation should be raised in patients with recurrent infections, hypogammaglobulinemia, and decreased memory B cells/plasma cells.
  • The findings underscore the importance of NFκB2 signaling in immune homeostasis and suggest potential therapeutic targets for related immunodeficiencies.