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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.
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Inflammatory Bowel Disease II: Crohn's Disease01:30

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Chronic Bowel Disorders: Introduction01:17

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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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T Cell Types and Functions01:24

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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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Inflammatory Bowel Disease I: Ulcerative Colitis01:27

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Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
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Tumor Necrosis Factor (TNF), a proinflammatory cytokine, contributes significantly to the inflammation seen in Crohn's disease. It exists as soluble TNF and membrane-bound TNF, with actions mediated through TNF receptors (TNFR). TNFR activation leads to the release of proinflammatory cytokines, T-cell activation, collagen production, and leukocyte migration, all contributing to inflammation in Crohn's disease. Anti-TNF monoclonal antibodies, namely infliximab (Remicade), adalimumab...
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Author Spotlight: Isolation and Culture of Primary Synovial Macrophages and Fibroblasts from Murine Arthritis Tissue
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[Autoinflammatory diseases].

Ricardo A G Russo1, María M Katsicas1

  • 1Servicio de Inmunología y Reumatología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.

Medicina
|June 14, 2016
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Summary
This summary is machine-generated.

Monogenic autoinflammatory diseases involve innate immune defects causing excessive inflammation. While IL-1 targeted therapies are effective, many patients lack genetic diagnoses and optimal treatments, suggesting new genetic targets are needed.

Keywords:
CAPSFMFIL-1MKDTRAPSautoinflammationinnate immune system

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Area of Science:

  • Immunology
  • Genetics
  • Rare Diseases

Background:

  • Monogenic autoinflammatory diseases are rare genetic disorders characterized by innate immune system defects.
  • These conditions lead to uncontrolled inflammatory responses due to constitutive immune dysregulation.
  • Common examples include Familial Mediterranean Fever (FMF), TRAPS, MKD/HIDS, and CAPS.

Purpose of the Study:

  • To review the current understanding of monogenic autoinflammatory diseases.
  • To highlight diagnostic challenges and therapeutic advancements.
  • To identify unmet needs and future research directions.

Main Methods:

  • Literature review of monogenic autoinflammatory diseases.
  • Analysis of genetic underpinnings and clinical manifestations.
  • Evaluation of current and emerging treatment strategies.

Main Results:

  • Over 15 years, numerous monogenic autoinflammatory diseases and their genes have been identified.
  • Clinical features include fever, rash, and elevated acute phase reactants; autoantibodies are typically absent.
  • Biologic therapies targeting IL-1β are highly effective for many patients.

Conclusions:

  • Genetic diagnosis is crucial but requires careful interpretation.
  • Despite effective treatments like IL-1 blockade, many autoinflammatory cases remain undiagnosed or suboptimally treated.
  • Further research into novel genetic mutations and pathways is essential for improving patient outcomes.