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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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Inflammatory Response01:28

Inflammatory Response

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An inflammatory response is a localized, nonspecific immune reaction that occurs when a tissue is injured. It is characterized by redness, swelling, heat, and pain, which are commonly called the cardinal signs and symptoms of inflammation. Inflammation can sometimes result in a loss of function.
Inflammation can be triggered by various stimuli, such as impact, abrasion, chemical irritation, infections, and extreme hot or cold temperatures. These can damage cells and connective tissue fibers,...
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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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Inflammatory Bowel Disease II: Crohn's Disease01:30

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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
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Inflammatory Bowel Disease I: Ulcerative Colitis01:27

Inflammatory Bowel Disease I: Ulcerative Colitis

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Introduction
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
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The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
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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.
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Autoinflammatory Syndromes in Children.

Ruth J Pepper1, Helen J Lachmann2

  • 1Centre For Nephrology, and Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, University College London, London, UK.

Indian Journal of Pediatrics
|January 30, 2016
PubMed
Summary

Systemic autoinflammatory diseases are rare innate immune disorders presenting with fever and inflammation. Early diagnosis and genetic testing are crucial for effective long-term drug therapies.

Keywords:
AutoinflammationCryopyrin associated periodic syndrome (CAPS)Familial Mediterranean Fever (FMF)Interleukin 1 (IL-1)Mevalonate kinase deficiency (MKD)Systemic autoinflammatory syndromesTumour necrosis factor receptor associated periodic syndrome (TRAPS)

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Systemic autoinflammatory diseases (SAIDs) are rare disorders of the innate immune system.
  • They typically manifest in childhood with recurrent fevers and systemic inflammation.
  • The discovery of genetic defects, like in Familial Mediterranean Fever, has advanced understanding of innate immunity and cytokine regulation, especially IL-1.

Purpose of the Study:

  • To review the main systemic autoinflammatory diseases.
  • To highlight the importance of recognizing these rare conditions.
  • To discuss diagnostic approaches and therapeutic advancements.

Main Methods:

  • Literature review focusing on key systemic autoinflammatory diseases.
  • Discussion of diagnostic criteria, including clinical suspicion and genetic testing.
  • Overview of current long-term drug therapies.

Main Results:

  • SAIDs are rare but significant conditions impacting innate immunity.
  • Genetic discoveries have elucidated pathways regulating pro-inflammatory cytokines like IL-1.
  • Many SAIDs can be effectively managed with appropriate long-term treatments.

Conclusions:

  • Recognition of SAIDs is vital due to available effective treatments.
  • Diagnosis relies on clinical suspicion supported by genetic testing.
  • Further research into innate immunity and cytokine regulation continues to inform management.