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

Desensitization and Tachyphylaxis01:20

Desensitization and Tachyphylaxis

3.0K
Tachyphylaxis is described as a rapid decrease in response to a drug after repeated or continuous administration of the same drug dose. It is a phenomenon where the body becomes less responsive to a particular substance or intervention over time, requiring higher doses or stronger interventions to achieve the same effect. It results from adaptive changes in the body's receptors, signaling pathways, or physiological processes that occur in response to prolonged exposure to a stimulus.
3.0K
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

5.1K
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...
5.1K
Pulmonary Tuberculosis III01:31

Pulmonary Tuberculosis III

921
Tuberculosis (TB) is a contagious infection primarily affecting the lung parenchyma but which can also affect other body parts. TB can be classified based on disease development, presentation, and the affected anatomical site.
The first classification is based on the development of the disease, and it includes the following categories:
921
Pulmonary Tuberculosis II01:28

Pulmonary Tuberculosis II

1.4K
Tuberculosis, or TB, is a bacterial infectious disease caused by Mycobacterium tuberculosis. While its primary impact is on the lungs, leading to pulmonary tuberculosis, it can also affect various other organs, a condition referred to as extrapulmonary tuberculosis.
Here is a detailed explanation of its pathophysiology:
Transmission: The process begins when a person inhales droplet nuclei containing M. tuberculosis. These are typically released into the air when an individual with pulmonary or...
1.4K

You might also read

Related Articles

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

Sort by
Same author

Henoch-Schoenlein purpura-like lesions in IL12RB1 and IL12B defects-a multi-centric experience from India.

Clinical and experimental immunology·2026
Same author

Limitations of Functional Scoring Systems in Predicting Long-term Quality of Life in Anorectal Malformations.

Journal of Indian Association of Pediatric Surgeons·2026
Same author

Rare Association of Mayer-Rokitansky-Kuster-Hauser Syndrome with Rectovestibular Fistula and Colonic Atresia.

Journal of Indian Association of Pediatric Surgeons·2026
Same author

Safety and outcome of bedaquiline and delamanid-based longer oral regimen in Indian children less than 5 years with drug-resistant tuberculosis.

Lung India : official organ of Indian Chest Society·2025
Same author

Nocardia in inborn errors in immunity.

Infectious diseases (London, England)·2025
Same author

Screening for Common Mental Disorders in Caregivers of Children with Severe Acute Malnutrition in a Nutritional Rehabilitation Center using WHO Self-reporting Questionnaire-20.

Indian journal of public health·2025

Related Experiment Video

Updated: Jan 14, 2026

Chemical Cartography Approaches to Study Trypanosomatid Infection
08:21

Chemical Cartography Approaches to Study Trypanosomatid Infection

Published on: January 21, 2022

2.7K

Tregopathy in focus.

Vaishnavi Venkatachari Iyengar1, Vijaya Gowri1, Akshaya Sanjay Chougule1

  • 1Department of Immunology, Bai Jerbai Wadia Hospital for Children, Mumbai, India.

Frontiers in Immunology
|October 27, 2025
PubMed
Summary

Primary immune regulatory disorders involve multiple autoimmune complications due to T regulatory-cell (Treg) pathway defects. Early suspicion and targeted therapies significantly improve patient outcomes.

Keywords:
JAK- STAT signaling pathwayLRBA and CTLA-4 deficienciesPIRDTreg - regulatory T cellautoimmune diseaseimmune dysregulationpolyautoimmunity

More Related Videos

Author Spotlight: AI-Driven Trypanosome Species Detection from Microscopic Images
08:20

Author Spotlight: AI-Driven Trypanosome Species Detection from Microscopic Images

Published on: October 27, 2023

2.5K
Genotypic Inference of HIV-1 Tropism Using Population-based Sequencing of V3
11:10

Genotypic Inference of HIV-1 Tropism Using Population-based Sequencing of V3

Published on: December 27, 2010

12.7K

Related Experiment Videos

Last Updated: Jan 14, 2026

Chemical Cartography Approaches to Study Trypanosomatid Infection
08:21

Chemical Cartography Approaches to Study Trypanosomatid Infection

Published on: January 21, 2022

2.7K
Author Spotlight: AI-Driven Trypanosome Species Detection from Microscopic Images
08:20

Author Spotlight: AI-Driven Trypanosome Species Detection from Microscopic Images

Published on: October 27, 2023

2.5K
Genotypic Inference of HIV-1 Tropism Using Population-based Sequencing of V3
11:10

Genotypic Inference of HIV-1 Tropism Using Population-based Sequencing of V3

Published on: December 27, 2010

12.7K

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Primary immune regulatory disorders are characterized by predominant autoimmune complications.
  • Regulatory T-cell (Treg) pathway defects are increasingly recognized as a cause of polyautoimmunity.

Purpose of the Study:

  • To describe the clinical features, genetic causes, and treatment outcomes of 26 patients with Treg pathway defects.
  • To highlight the diagnostic challenges and therapeutic advancements in primary immune regulatory disorders.

Main Methods:

  • Retrospective evaluation of clinical data from 26 patients with pathogenic variants in Treg pathway genes.
  • Analysis of clinical manifestations, genetic diagnoses, treatment regimens, and patient outcomes.

Main Results:

  • The median age at onset was 4.25 years with a 2-year delay in diagnosis.
  • Common genetic defects included LRBA deficiency and CTLA4 defect; autoimmune cytopenia was the most frequent autoimmune manifestation.
  • Lymphoproliferation, hypogammaglobulinemia, and low B-cell/CD3 levels were frequently observed. Targeted therapies like mTOR inhibitors and JAK inhibitors showed better autoimmunity control, and hematopoietic stem cell transplantation (HSCT) was successful in some patients.

Conclusions:

  • Treg deficiency presents a wide spectrum of clinical manifestations, emphasizing the need for high suspicion in early childhood polyautoimmunity.
  • Prompt diagnosis and the availability of targeted therapies can significantly improve the prognosis for patients with these rare disorders.