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

810
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...
810
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

4.4K
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...
4.4K
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

6.6K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
6.6K
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

1.3K
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...
1.3K
Clinical Applications of Epidermal Stem Cells01:19

Clinical Applications of Epidermal Stem Cells

2.8K
Epidermal stem cells (EpiSCs) are mainly located at the basal layer of the epidermis. These cells repair minor injuries of the skin and replace dead skin cells. However, EpiSCs’ cannot heal severe wounds such as major burns or those from diabetes or hereditary disorders. In such cases, culturing the epidermal stem cells from the patient is possible and has yielded successful treatment options, such as laboratory-grown skin grafts. These grafts are synthesized using a patient’s own...
2.8K

You might also read

Related Articles

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

Sort by
Same author

A streamlined approach for gene editing in non-obese diabetes (NOD) mice via CRISPR/Cas9.

Laboratory animal research·2026
Same author

Candidozyma auris utilizes transferrin, but not heme-bound iron for in vivo virulence.

bioRxiv : the preprint server for biology·2026
Same author

Selective JAK Inhibition Reveals Paradoxical and Hierarchical Control of interferon-γ-driven Autoimmunity in AIRE Deficiency.

bioRxiv : the preprint server for biology·2026
Same author

Non-canonical IL‑22 receptor signaling remodels the oral mucosal barrier during Candida albicans immunosurveillance.

Nature communications·2026
Same author

Host-Candida auris interactions in the skin.

PLoS pathogens·2026
Same author

Additive effects of common and rare genetic variants on inflammatory bowel disease risk in a cohort with immunodeficiency.

The Journal of allergy and clinical immunology·2026

Related Experiment Video

Updated: Oct 13, 2025

Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

10.6K

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.

Elise M N Ferré1, Monica M Schmitt1, Michail S Lionakis1

  • 1Fungal Pathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, United States.

Frontiers in Pediatrics
|November 18, 2021
PubMed
Summary

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare genetic disorder caused by AIRE gene mutations, leading to immune system dysfunction. Early recognition of its varied symptoms aids diagnosis and management of this autoimmune polyglandular syndrome type-1.

Keywords:
AIREAPECED syndromeAPS-1IFN-γIL-17autoantibodiesself-reactive T cellstype-I interferons

More Related Videos

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases
06:50

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases

Published on: May 29, 2020

2.7K
Experimental Autoimmune Uveitis: An Intraocular Inflammatory Mouse Model
07:40

Experimental Autoimmune Uveitis: An Intraocular Inflammatory Mouse Model

Published on: January 12, 2022

5.3K

Related Experiment Videos

Last Updated: Oct 13, 2025

Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

10.6K
A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases
06:50

A High-Throughput Electrochemiluminescence 7-Plex Assay Simultaneously Screening for Type 1 Diabetes and Multiple Autoimmune Diseases

Published on: May 29, 2020

2.7K
Experimental Autoimmune Uveitis: An Intraocular Inflammatory Mouse Model
07:40

Experimental Autoimmune Uveitis: An Intraocular Inflammatory Mouse Model

Published on: January 12, 2022

5.3K

Area of Science:

  • Immunology
  • Genetics
  • Endocrinology

Background:

  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or autoimmune polyglandular syndrome type-1 (APS-1), is a rare monogenic autoimmune disease.
  • It results from loss-of-function mutations in the autoimmune regulator (AIRE) gene, impairing central immune tolerance.
  • AIRE deficiency leads to the escape of self-reactive T lymphocytes and autoantibody production.

Purpose of the Study:

  • To review the current understanding of APECED.
  • To summarize genetic, immunological, clinical, diagnostic, and treatment features.
  • To emphasize the importance of recognizing non-endocrine manifestations for early diagnosis.

Main Methods:

  • Literature review of APECED.
  • Synthesis of data on genetics, immunology, clinical presentation, diagnosis, and treatment.

Main Results:

  • APECED is characterized by a triad: chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency.
  • Patients exhibit variable non-endocrine autoimmune manifestations.
  • AIRE deficiency is the underlying genetic cause, affecting thymic tolerance.

Conclusions:

  • Early diagnosis of APECED is crucial for timely intervention.
  • Recognition of diverse clinical features by pediatricians facilitates prompt management.
  • Understanding APECED's multifaceted nature informs screening, prevention, and treatment strategies.