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

Autoimmune Disorders01:29

Autoimmune Disorders

392
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
392
T Cell Types and Functions01:24

T Cell Types and Functions

959
When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
959
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

11.8K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
11.8K
Mutations01:39

Mutations

80.8K
Overview
80.8K
The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

8.7K
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
8.7K
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

3.7K
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...
3.7K

You might also read

Related Articles

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

Sort by
Same author

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS-DAI).

Arthritis care & research·2026
Same author

Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents.

American journal of hematology·2026
Same author

VEXAS syndrome.

Nature reviews. Disease primers·2026
Same author

Somatic Variants in Immune Dysregulation: An Ongoing Challenge.

Arthritis & rheumatology (Hoboken, N.J.)·2026
Same author

CD8<sup>+</sup> T cell loss induces autoinflammation in inborn errors of cell death.

Nature communications·2026
Same author

PAXIS: A Randomized, Double-Blind, Placebo-Controlled, Dose-Finding Phase 2 Study (Part 1) Followed by an Open-Label Period (Part 2) to Assess the Efficacy and Safety of Pacritinib in Patients with VEXAS Syndrome.

Journal of clinical medicine·2026

Related Experiment Video

Updated: Jun 10, 2025

Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
12:36

Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry

Published on: June 26, 2018

9.4K

Somatic mutations in autoinflammatory and autoimmune disease.

Sofia Torreggiani1,2, Flore S Castellan3, Ivona Aksentijevich4

  • 1Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. sofia.torreggiani@nih.gov.

Nature Reviews. Rheumatology
|October 11, 2024
PubMed
Summary

Somatic mutations, acquired changes in body cells, are increasingly linked to benign and immune-related diseases, not just cancer. Understanding these mutations is crucial for genetic testing and counseling in various conditions.

More Related Videos

Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies
09:08

Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies

Published on: June 2, 2021

1.8K
Interrogating Individual Autoreactive Germinal Centers by Photoactivation in a Mixed Chimeric Model of Autoimmunity
11:12

Interrogating Individual Autoreactive Germinal Centers by Photoactivation in a Mixed Chimeric Model of Autoimmunity

Published on: April 11, 2019

7.1K

Related Experiment Videos

Last Updated: Jun 10, 2025

Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
12:36

Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry

Published on: June 26, 2018

9.4K
Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies
09:08

Investigating Target Gene Function in a CD40 Agonistic Antibody-induced Colitis Model using CRISPR/Cas9-based Technologies

Published on: June 2, 2021

1.8K
Interrogating Individual Autoreactive Germinal Centers by Photoactivation in a Mixed Chimeric Model of Autoimmunity
11:12

Interrogating Individual Autoreactive Germinal Centers by Photoactivation in a Mixed Chimeric Model of Autoimmunity

Published on: April 11, 2019

7.1K

Area of Science:

  • Immunology
  • Genetics
  • Pathology

Background:

  • Somatic mutations, or acquired mutations, are common age-related changes in body cells.
  • While historically linked to cancer, somatic mutations are increasingly implicated in benign and rheumatic diseases.
  • These mutations play a role in both monogenic and complex immunological disorders.

Purpose of the Study:

  • To review the contribution of somatic mutations to immunological diseases.
  • To detail unique aspects of somatic mutations in causing and influencing disease.
  • To explore the implications of somatic mutations in genetic testing and counseling.

Main Methods:

  • Literature review of somatic mutations in immunological diseases.
  • Analysis of pathogenic mechanisms and clinical relevance.
  • Discussion of clonal dynamics and variant allele fraction.

Main Results:

  • Somatic mutations can cause early- or late-onset monogenic rheumatic diseases.
  • They contribute to the pathogenesis and progression of complex inflammatory and immune-mediated diseases.
  • Clonal dynamics and variant allele fraction impact pathogenicity and phenotypic consequences.

Conclusions:

  • Somatic mutations are significant contributors to a spectrum of immunological diseases.
  • Recognition of somatic mutations is expanding due to improved diagnostics.
  • An increasing number of gene mutations causing inflammatory conditions, especially late-onset diseases, are anticipated.