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

NF-κB-dependent Signaling Pathway02:26

NF-κB-dependent Signaling Pathway

10.2K
The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
The...
10.2K
Cytotoxic T Cells-mediated Immune Response01:27

Cytotoxic T Cells-mediated Immune Response

7.8K
Cytotoxic T cells are a vital component of the immune system. They have the remarkable ability to identify and target antigens on infected or abnormal cells. These antigens often originate from intracellular pathogens such as viruses or abnormal proteins cancer cells produce.
Immunological surveillance is the ability of immune cells to monitor and eliminate infected cells with intracellular pathogens, neoplastically transformed cells, and cells with non-self antigens. Cytotoxic T cells and NK...
7.8K
Cells of the Innate Immune Response01:28

Cells of the Innate Immune Response

10.1K
The innate immune response is an immediate and non-specific response against pathogens, acting swiftly to prevent the spread of infections. The primary cells involved in this response are phagocytes and natural killer (NK) cells.
Phagocytes
Phagocytes police the peripheral tissues by removing cellular debris and responding to the invasion of foreign substances or pathogens. Many phagocytes attack and remove microorganisms even before lymphocytes detect them. The human body has two general...
10.1K

You might also read

Related Articles

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

Sort by
Same author

Transcriptional Profiling Shows Dampening of Interferon Gene Signatures by NAD<sup>+</sup> Augmentation in Ataxia-Telangiectasia.

International journal of molecular sciences·2026
Same author

CDK4/6 inhibition sensitizes breast cancer to NK cell therapy by inducing immune-interactive surface proteins.

bioRxiv : the preprint server for biology·2026
Same author

Assessment of TREC-Based NBS SCID Reporting Practices for Harmonization of Results and Interpretation: A Global Survey.

The journal of allergy and clinical immunology. In practice·2026
Same author

Inhibition of NFAT after human uterus transplant promotes loss of tissue-resident NK cells and attendant pregnancy complications.

Science translational medicine·2026
Same author

Gene Regulatory Programs of NK Cells Show That NCAM1 (CD56) and KIRs Are Controlled by Genetically Polymorphic Distal Regulatory Elements.

European journal of immunology·2026
Same author

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.

Research square·2026

Related Experiment Video

Updated: Mar 11, 2026

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
07:58

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes

Published on: March 6, 2019

9.1K

Biallelic mutations in IRF8 impair human NK cell maturation and function.

Emily M Mace, Venetia Bigley, Justin T Gunesch

    The Journal of Clinical Investigation
    |November 29, 2016
    PubMed
    Summary

    Mutations in IRF8 cause familial NK cell deficiency, leading to severe viral diseases. This research highlights IRF8

    More Related Videos

    Purification and Expansion of Mouse Invariant Natural Killer T Cells for in vitro and in vivo Studies
    08:37

    Purification and Expansion of Mouse Invariant Natural Killer T Cells for in vitro and in vivo Studies

    Published on: February 15, 2021

    4.9K
    Native Polyacrylamide Gel Electrophoresis Immunoblot Analysis of Endogenous IRF5 Dimerization
    08:57

    Native Polyacrylamide Gel Electrophoresis Immunoblot Analysis of Endogenous IRF5 Dimerization

    Published on: October 6, 2019

    10.9K

    Related Experiment Videos

    Last Updated: Mar 11, 2026

    qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
    07:58

    qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes

    Published on: March 6, 2019

    9.1K
    Purification and Expansion of Mouse Invariant Natural Killer T Cells for in vitro and in vivo Studies
    08:37

    Purification and Expansion of Mouse Invariant Natural Killer T Cells for in vitro and in vivo Studies

    Published on: February 15, 2021

    4.9K
    Native Polyacrylamide Gel Electrophoresis Immunoblot Analysis of Endogenous IRF5 Dimerization
    08:57

    Native Polyacrylamide Gel Electrophoresis Immunoblot Analysis of Endogenous IRF5 Dimerization

    Published on: October 6, 2019

    10.9K

    Area of Science:

    • Immunology
    • Human Genetics
    • Hematology

    Background:

    • Human Natural Killer (NK) cell deficiencies are rare but can cause severe, life-threatening diseases, especially increased susceptibility to viral infections.
    • Monogenic defects specifically disrupting NK cell development are infrequently identified.

    Purpose of the Study:

    • To identify the genetic basis of familial NK cell deficiency.
    • To elucidate the role of IRF8 in human NK cell development and function.
    • To understand the implications of IRF8 mutations for antiviral immunity.

    Main Methods:

    • Genetic analysis of three unrelated families with familial NK cell deficiency.
    • Flow cytometry to analyze NK cell populations (CD56dim and CD56bright).
    • In vitro studies and mouse models (Irf8-/-) to assess NK cell maturation and function.
    • Gene expression profiling of human NK cell subsets.

    Main Results:

    • Biallelic mutations in IRF8 were identified as the cause of familial NK cell deficiency.
    • Mutations led to a decrease in mature CD56dim NK cells and an increase in immature CD56bright NK cells, indicating impaired terminal maturation.
    • IRF8 deficiency resulted in intrinsic NK cell functional defects and dysregulated gene expression, correlating with severe viral disease.

    Conclusions:

    • IRF8 is essential for the proper development and functional maturation of human NK cells.
    • IRF8 mutations impair NK cell maturation, leading to severe viral susceptibility and disease.
    • This study underscores the critical role of NK cells, regulated by IRF8, in human antiviral defense.