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

44.6K
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
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
Cognitive Development During Adolescence01:18

Cognitive Development During Adolescence

633
During adolescence, individuals experience significant cognitive development that enhances their understanding of others' emotions and thoughts, known as cognitive empathy. This period is marked by an increased ability to adapt to others' perspectives and a more nuanced understanding of others' mental states, a skill that is foundational for social problem-solving and conflict avoidance. The development of cognitive empathy relies heavily on the theory of mind — the...
633
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
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

1.2K
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
1.2K

You might also read

Related Articles

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

Sort by
Same author

Comparison of Epiretinal Membrane Detection Rates Between Optos<sup>®</sup> and Clarus<sup>™</sup> Ultra-Widefield Fundus Imaging Systems.

Journal of clinical medicine·2026
Same author

Subgroups of Kawasaki disease in Japanese patients and temporal change: a retrospective data-driven cluster analysis.

Clinical rheumatology·2026
Same author

α7 nicotinic acetylcholine receptor, activated glia, and cognitive impairment in schizophrenia: a dual-tracer PET study.

Molecular psychiatry·2025
Same author

Cheilitis Granulomatosa in Childhood: Unveiling an Uncommon Cause of Lip Enlargement.

Clinical case reports·2025
Same author

Serum Alkaline Phosphatase Levels in Pediatric Kikuchi-Fujimoto Disease: A Retrospective Observational Analysis.

Immunity, inflammation and disease·2025
Same author

Clinical Characteristics of Persistent Hypophosphatasemia Uncovered in Adult Patients: A Retrospective Study at a Japanese Tertiary Hospital.

Journal of clinical medicine·2024

Related Experiment Video

Updated: Feb 10, 2026

Author Spotlight: Advancements in Retroperitoneal Approach for Necrotizing Pancreatitis
03:42

Author Spotlight: Advancements in Retroperitoneal Approach for Necrotizing Pancreatitis

Published on: March 15, 2024

1.2K

STAT3-Mutated Hyper-IgE Syndrome With Retroperitoneal Abscess in Adolescence.

Hiroaki Sugiyama1, Yousuke Higuchi1, Shintaro Fujiwara1

  • 1Department of Pediatrics NHO Okayama Medical Center Okayama Japan.

Clinical Case Reports
|February 9, 2026
PubMed
Summary

Hyperimmunoglobulin E syndrome (HIES), a rare immunodeficiency, can manifest with deep-seated infections like retroperitoneal abscesses. Genetic testing confirmed a STAT3 variant, highlighting HIES in unusual presentations.

Keywords:
STAT3 varianthyper‐IgE syndromemethicillin‐sensitive Staphylococcus aureusprimary immunodeficiency disorderretroperitoneal abscess

More Related Videos

Detection of True IgE-expressing Mouse B Lineage Cells
09:40

Detection of True IgE-expressing Mouse B Lineage Cells

Published on: December 1, 2014

11.5K
Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
08:42

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

5.1K

Related Experiment Videos

Last Updated: Feb 10, 2026

Author Spotlight: Advancements in Retroperitoneal Approach for Necrotizing Pancreatitis
03:42

Author Spotlight: Advancements in Retroperitoneal Approach for Necrotizing Pancreatitis

Published on: March 15, 2024

1.2K
Detection of True IgE-expressing Mouse B Lineage Cells
09:40

Detection of True IgE-expressing Mouse B Lineage Cells

Published on: December 1, 2014

11.5K
Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
08:42

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

5.1K

Area of Science:

  • Immunology
  • Genetics
  • Infectious Diseases

Background:

  • Hyperimmunoglobulin E syndrome (HIES) is a rare primary immunodeficiency.
  • Characterized by eczema, recurrent staphylococcal infections, and markedly elevated serum IgE.
  • Often presents with characteristic skin and pulmonary issues.

Purpose of the Study:

  • To report a rare case of HIES presenting with a retroperitoneal abscess.
  • To emphasize the importance of considering HIES in atypical infection sites.
  • To highlight the genetic basis of autosomal-dominant HIES.

Main Methods:

  • Case report of an 18-year-old female with acute abdominal pain.
  • Diagnostic workup included laboratory tests (IgE, CRP) and imaging.
  • Genetic analysis identified a heterozygous STAT3 variant.
  • NIH-HIES score calculated for diagnostic support.

Main Results:

  • Patient diagnosed with a retroperitoneal abscess caused by Methicillin-sensitive Staphylococcus aureus.
  • Serum IgE level was >20,150 U/L; CRP was 180.30 mg/L.
  • NIH-HIES score was 60 points.
  • Heterozygous STAT3 variant (c.1145G>A, p.(Arg382Gln)) confirmed autosomal-dominant HIES.

Conclusions:

  • HIES should be considered even with deep-seated infections outside typical locations.
  • STAT3 mutations are a key genetic cause of autosomal-dominant HIES.
  • This case underscores the diverse clinical spectrum of HIES.