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

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Type I Diabetes I: Introduction01:12

Type I Diabetes I: Introduction

Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...

You might also read

Related Articles

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

Sort by
Same author

Inherited human TFIIIA deficiency disrupts T cell development.

medRxiv : the preprint server for health sciences·2026
Same author

Italian healthcare professionals' real-world experience with immunization in children of non-European origin: the Vax4globe survey.

Frontiers in pediatrics·2026
Same author

Cerebral X-Linked Adrenoleukodystrophy Associated with Hemophilia A: a case report.

Hormone research in paediatrics·2026
Same author

Perceptions of challenges in clinical pediatric research: a survey of Italian pediatricians.

Italian journal of pediatrics·2026
Same author

TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients.

Journal of translational medicine·2026
Same author

Addison's disease in Italy: mortality and survival by etiology.

Journal of endocrinological investigation·2026

Related Experiment Video

Updated: May 17, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.

Donatella Capalbo1, Lucia De Martino, Giuliana Giardino

  • 1Department of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.

International Journal of Endocrinology
|November 8, 2012
PubMed
Summary

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare genetic disorder caused by AIRE gene mutations. Understanding its varied symptoms and genotype-phenotype links is crucial for timely diagnosis and managing this complex autoimmune syndrome.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: May 17, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

  • Immunology
  • Genetics
  • Endocrinology

Background:

  • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disorder.
  • It results from mutations in the autoimmune regulator (AIRE) gene, leading to impaired T cell tolerance in the thymus.
  • Key features include chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease, alongside diverse autoimmune manifestations.

Purpose of the Study:

  • To provide an overview of the clinical presentation and diagnostic criteria for APECED.
  • To explore the current understanding of genotype-phenotype correlations in APECED.
  • To highlight the diagnostic challenges posed by the heterogeneity of APECED's clinical expression.

Main Methods:

  • Literature review of APECED cases and AIRE gene mutations.
  • Analysis of clinical data and patient phenotypes.
  • Examination of genotype-phenotype correlations reported in scientific literature.

Main Results:

  • APECED presents with a complex and heterogeneous phenotype, even among siblings with identical AIRE genotypes.
  • Diagnostic delays are common due to the wide spectrum of symptoms and variability in disease severity.
  • Genotype-phenotype correlations reveal specific AIRE mutations associated with particular clinical manifestations, though variability persists.

Conclusions:

  • Prompt diagnosis of APECED is essential to prevent severe complications and requires awareness of its diverse clinical signs.
  • Understanding genotype-phenotype correlations aids in predicting disease course and managing APECED patients.
  • Further research into AIRE gene function and APECED pathogenesis is needed to improve diagnostic and therapeutic strategies.