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

Skin Diseases and Disorders01:23

Skin Diseases and Disorders

5.4K
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...
5.4K
Pedigree Analysis01:35

Pedigree Analysis

78.9K
Overview
78.9K
Autoimmune Disorders01:29

Autoimmune Disorders

2.4K
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...
2.4K
Sex-linked Disorders01:43

Sex-linked Disorders

95.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
95.2K
Drug Toxicity: Allergic Reactions01:30

Drug Toxicity: Allergic Reactions

223
Drug-related allergies are immune-mediated responses triggered by the administration of pharmacological agents. These hypersensitivity reactions are classified based on the immune mechanisms involved. The four primary types—Type I, II, III, and IV—are mediated by different immunological pathways and exhibit distinct clinical manifestations.Type I Hypersensitivity/ IgE-Mediated Reactions: Immunoglobulin E (IgE) immediately mediates Type I hypersensitivity reactions. Upon initial...
223
Genetic Lingo01:11

Genetic Lingo

84.9K
Overview
84.9K

You might also read

Related Articles

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

Sort by
Same author

A Case of Glucocorticoid-Resistant VEXAS Syndrome Successfully Treated with Baricitinib.

Modern rheumatology case reports·2026
Same author

The homozygous founder Psmb8 variant of Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome causes panniculitis-associated lipoatrophy and a shortened lifespan in mice.

Scientific reports·2026
Same author

Cornering: A Geometric Framework for Surgical Dissection in Minimally Invasive Surgery.

Surgical innovation·2026
Same author

An Exploratory Study to Identify Factors Associated with Recurrence of Generalized Pustular Psoriasis Flares in Adult Patients in Japan.

Acta dermato-venereologica·2026
Same author

Peripheral blood UBA1 variant burden predicts poor outcomes in VEXAS syndrome: a nationwide prospective study.

Annals of the rheumatic diseases·2026
Same author

A Case of Transient Nodules with Venous Calcification during Acute Exacerbation of Chronic Kidney Disease.

Acta dermato-venereologica·2026

Related Experiment Video

Updated: May 5, 2026

Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

9.9K

Hereditary disorders presenting with urticaria.

Nobuo Kanazawa1

  • 1Department of Dermatology, Wakayama Medical University, 811-1 Kimiidera, Wakayama 641-0012, Japan.

Immunology and Allergy Clinics of North America
|November 23, 2013
PubMed
Summary

Genetic insights into hereditary urticaria, including mastocytosis and angioedema, guide targeted therapies. Ongoing genetic research into undefined familial cases promises new treatments for cold urticaria syndromes.

Keywords:
Autoinflammatory syndromeBradykininC1-inhibitorIL-1βKITNLRP12NLRP3 inflammasomePLCγ2

More Related Videos

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

23.9K
Basophil Activation Test for Allergy Diagnosis
07:22

Basophil Activation Test for Allergy Diagnosis

Published on: May 31, 2021

10.0K

Related Experiment Videos

Last Updated: May 5, 2026

Granulocyte-dependent Autoantibody-induced Skin Blistering
12:23

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

9.9K
Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

23.9K
Basophil Activation Test for Allergy Diagnosis
07:22

Basophil Activation Test for Allergy Diagnosis

Published on: May 31, 2021

10.0K

Area of Science:

  • Immunology
  • Genetics
  • Dermatology

Background:

  • Hereditary disorders presenting with urticaria include urticaria pigmentosa (mastocytosis), hereditary angioedema, and cryopyrin-associated periodic syndromes.
  • Understanding the genetic basis and pathogenesis of these conditions is crucial for developing disease-specific treatments.
  • Recent discoveries include NLRP12-associated periodic syndrome and PLCG2-associated antibody deficiency and immune dysregulation as distinct hereditary autoinflammatory syndromes with cold urticaria.

Purpose of the Study:

  • To review the genetic landscape of hereditary urticaria.
  • To highlight the importance of genetic diagnosis for therapeutic strategies.
  • To discuss emerging hereditary autoinflammatory syndromes associated with cold urticaria.

Main Methods:

  • Review of current clinical guidelines and recent scientific literature.
  • Analysis of genetic findings in hereditary urticaria and related autoinflammatory syndromes.
  • Discussion of the implications for therapeutic development.

Main Results:

  • Three major hereditary urticarial disorders are recognized: mastocytosis, hereditary angioedema, and cryopyrin-associated periodic syndromes.
  • New hereditary autoinflammatory syndromes with cold urticaria, such as NLRP12-associated periodic syndrome and PLCG2-associated disorders, have been identified.
  • Several familial urticaria cases remain genetically undefined, indicating areas for future research.

Conclusions:

  • Genetic understanding is fundamental for tailoring therapies for hereditary urticarial disorders.
  • Advances in genetic analysis are crucial for identifying novel targets and developing new treatments.
  • Further research into genetically undefined familial urticaria is expected to yield significant therapeutic advancements.