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Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

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 system...
Type I Diabetes I: Introduction01:12

Type I Diabetes I: Introduction

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 diabetes is an...
What is the Immune System?01:38

What is the Immune System?

Overview
Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...
Gastritis-II: Pathophysiology01:17

Gastritis-II: Pathophysiology

Gastritis is marked by disruption of the mucosal barrier that usually protects the stomach tissue from digestive juices and manifests in acute and chronic forms.
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...

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Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry
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Published on: June 26, 2018

Monogenic autoimmunity.

Mickie H Cheng1, Mark S Anderson

  • 1Department of Medicine, Division of Endocrinology and Metabolism, University of California at San Francisco, San Francisco, California 94143, USA.

Annual Review of Immunology
|January 10, 2012
PubMed
Summary
This summary is machine-generated.

Monogenic autoimmune diseases reveal how immune tolerance breaks down. Innate immune defects cause systemic autoimmunity, while adaptive immune defects lead to organ-specific autoimmunity.

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Published on: June 26, 2018

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Area of Science:

  • Immunology
  • Genetics
  • Autoimmunity

Background:

  • Monogenic autoimmune syndromes offer insights into immune tolerance mechanisms.
  • These rare diseases highlight how specific genetic defects lead to autoimmunity.

Purpose of the Study:

  • To explore the distinct roles of innate and adaptive immunity in causing systemic versus organ-specific autoimmunity.
  • To analyze pathogenic mechanisms in key monogenic autoimmune syndromes.

Main Methods:

  • Review of established monogenic autoimmune syndromes.
  • Analysis of immune system disturbances (innate vs. adaptive) and their clinical manifestations.

Main Results:

  • Defects in innate immunity (e.g., C1q deficiency, SPENCDI, AGS) are linked to systemic autoimmunity, often involving self-antigen clearance and type 1 interferon pathways.
  • Disruptions in adaptive immunity (e.g., ALPS, IPEX, APS1) typically result in organ-specific autoimmunity due to impaired lymphocyte homeostasis.

Conclusions:

  • Monogenic autoimmune syndromes demonstrate a clear dichotomy: innate immune defects lead to systemic disease, and adaptive immune defects lead to organ-specific disease.
  • Studying these rare variants is crucial for understanding and potentially treating both rare and common autoimmune conditions.