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Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

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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...
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Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

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Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
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Chronic Bowel Disorders: Introduction01:17

Chronic Bowel Disorders: Introduction

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Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
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T Cell Types and Functions01:24

T Cell Types and Functions

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When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
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Inflammatory Bowel Disease II: Crohn's Disease01:30

Inflammatory Bowel Disease II: Crohn's Disease

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Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
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Skin Diseases and Disorders01:23

Skin Diseases and Disorders

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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...
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Related Experiment Video

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Experimental Autoimmune Uveitis: An Intraocular Inflammatory Mouse Model
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Rare Autoinflammatory Diseases.

Özge Başaran1, Yelda Bilginer1, Seza Özen1

  • 1Division of Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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This summary is machine-generated.

Recent discoveries have identified new genes causing systemic autoinflammatory diseases, which involve innate immune system dysregulation. This review updates clinicians on actinopathies, interferonopathies, and NF-κB-mediated conditions.

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Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Systemic autoinflammatory diseases (SAIDs) result from innate immune system dysregulation causing widespread inflammation.
  • Familial Mediterranean Fever is the most common hereditary SAID, with its causative gene identified first.
  • Genomic advancements have revealed numerous additional genes linked to diverse autoinflammatory conditions.

Purpose of the Study:

  • To update clinicians on recently identified autoinflammatory conditions.
  • To enhance awareness of emerging genetic causes of systemic inflammation.
  • To focus on actinopathies, interferonopathies, and NF-κB-mediated autoinflammatory diseases.

Main Methods:

  • Review of recent scientific literature.
  • Focus on genetic discoveries in autoinflammatory diseases.
  • Categorization of diseases based on affected innate immune pathways.

Main Results:

  • Identification of novel genetic causes for various autoinflammatory conditions.
  • Understanding of distinct molecular pathways underlying these diseases.
  • Recognition of specific disease groups: actinopathies, interferonopathies, and NF-κB-mediated disorders.

Conclusions:

  • Continued genetic research is crucial for diagnosing and understanding SAIDs.
  • Increased clinician awareness of these conditions is vital for timely diagnosis and management.
  • Targeted therapies may emerge based on the specific genetic and molecular defects identified.