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Related Concept Videos

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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.
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Inflammatory Bowel Disease III: Crohn's Disease01:25

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Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
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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.
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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...
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The hereditary autoinflammatory disorders uncovered.

Donato Rigante1, Antonio Vitale2, Orso Maria Lucherini2

  • 1Institute of Pediatrics, Policlinico A. Gemelli, Università Cattolica Sacro Cuore, Largo A. Gemelli 8, 00168 Rome, Italy.

Autoimmunity Reviews
|August 24, 2014
PubMed
Summary

Hereditary autoinflammatory disorders (HAID) involve unprovoked inflammation due to innate immunity defects. Early recognition and IL-1-targeted therapies are crucial for managing these complex genetic conditions.

Keywords:
Autoinflammatory disorderFeverInflammationInterleukin-1

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Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Hereditary autoinflammatory disorders (HAID) are a group of heterogeneous conditions characterized by dysregulated innate immunity and recurrent, unprovoked inflammation.
  • These disorders manifest with systemic or localized inflammation affecting various organs, including joints, skin, and the gut.
  • Mutations in inflammasome-related genes highlight the critical role of the interleukin-1 (IL-1) pathway in HAID pathogenesis.

Purpose of the Study:

  • To review key diagnostic clues for hereditary autoinflammatory disorders.
  • To guide clinicians toward early recognition of HAID.
  • To inform treatment decisions, particularly regarding IL-1 targeted therapies.

Main Methods:

  • This review synthesizes current knowledge on HAID.
  • It focuses on clinical manifestations and genetic underpinnings.
  • It discusses the role of IL-1 pathway dysregulation and therapeutic interventions.

Main Results:

  • Recurrent fever and episodic inflammation are hallmark clinical features of HAID.
  • Inflammasome gene mutations are frequently implicated, underscoring the IL-1 pathway's role.
  • Diagnostic challenges persist, with a significant portion of patients lacking identified genetic abnormalities.

Conclusions:

  • Early identification of HAID is essential for effective management.
  • Targeting the IL-1 pathway with antagonists shows significant therapeutic benefit in many HAID.
  • Further research is needed to improve diagnostic protocols and expand treatment options for HAID.