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

Mutations01:39

Mutations

94.6K
Overview
94.6K
Mutations01:35

Mutations

44.7K
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...
44.7K
Active versus Passive Immunity01:31

Active versus Passive Immunity

11.0K
Immunity, along with the ability to limit pathogen growth to prevent significant body tissue damage, can be gained either by (1) actively developing an immune response within the individual after exposure to a pathogen or after getting vaccinated or (2) passively transferring immune components from an immune individual to one who is nonimmune. Both these forms of immunity can be found naturally and in medical practices.
Active Immunity
Active immunity refers to the resistance one develops...
11.0K
Viral Mutations00:36

Viral Mutations

40.0K
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...
40.0K
What is the Immune System?01:38

What is the Immune System?

132.7K
Overview
132.7K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

64.6K
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).
64.6K

You might also read

Related Articles

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

Sort by
Same author

Echocardiogram Testing in Patients with Post-COVID-19 Condition: A Systematic Review and Meta-Analysis.

Journal of clinical medicine·2026
Same author

Severe pulmonary involvement and elevated interferon-stimulated genes expression in two siblings with a novel <i>C1QB</i> pathogenic variant.

Journal of human immunity·2026
Same author

DECTIN-1 stalk length determines binding ability, immune response, and survival in a mouse model of coccidioidomycosis.

Journal of immunology (Baltimore, Md. : 1950)·2026
Same author

Clinical features, genetics, treatment, and long-term outcomes of STAT3 hyper-IgE syndrome: Single-center cohort analysis.

The Journal of allergy and clinical immunology·2026
Same author

Three Doses and Six Months Later: Real-World SARS-CoV-2 Specific Humoral and Cell-Mediated Immunity in Children With Inborn Errors of Immunity.

Journal of clinical immunology·2026
Same author

Oral deucrictibant for prophylaxis of hereditary angioedema attacks (CHAPTER-1): primary analysis of a randomised, double-blind, placebo-controlled, phase 2 trial.

The Lancet. Haematology·2026

Related Experiment Video

Updated: Feb 14, 2026

Construction of Homozygous Mutants of Migratory Locust Using CRISPR/Cas9 Technology
10:07

Construction of Homozygous Mutants of Migratory Locust Using CRISPR/Cas9 Technology

Published on: March 16, 2022

2.7K

Case Report: Characterization of a RAC2 R68W homozygous activating mutation causing combined immune deficiency.

Aléhandra Desjardins1,2, Louis Marois1,3, Ágnes Donkó4

  • 1Center for Immunity, Inflammation and Infectious Diseases, Montreal Clinical Research Institute (IRCM), Montreal, QC, Canada.

Frontiers in Immunology
|February 13, 2026
PubMed
Summary

Two patients with RAC2 deficiency, a rare immunodeficiency, showed a novel homozygous variant (p.R68W). This variant caused combined immunodeficiency with varied symptoms, highlighting the need for advanced genetic testing and tailored treatments.

Area of Science:

  • Immunology
  • Genetics
  • Rare Diseases

Background:

  • RAC2-related immunodeficiency is a rare inborn error of immunity with diverse clinical presentations.
  • It can range from severe combined immunodeficiency in neonates to atypical forms diagnosed later in life.
Keywords:
RAC2case reportcombined immunodeficiencygain-of-function mutationinborn errors of immunity

More Related Videos

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.9K
Isolation and Characterization of the Immune Cells from Micro-dissected Mouse Choroid Plexuses
09:55

Isolation and Characterization of the Immune Cells from Micro-dissected Mouse Choroid Plexuses

Published on: February 3, 2022

8.5K

Related Experiment Videos

Last Updated: Feb 14, 2026

Construction of Homozygous Mutants of Migratory Locust Using CRISPR/Cas9 Technology
10:07

Construction of Homozygous Mutants of Migratory Locust Using CRISPR/Cas9 Technology

Published on: March 16, 2022

2.7K
Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

7.9K
Isolation and Characterization of the Immune Cells from Micro-dissected Mouse Choroid Plexuses
09:55

Isolation and Characterization of the Immune Cells from Micro-dissected Mouse Choroid Plexuses

Published on: February 3, 2022

8.5K