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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
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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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Antigens Involved in Adaptive Immunity01:26

Antigens Involved in Adaptive Immunity

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An antigen is any substance the immune system identifies as foreign and potentially harmful to the body, prompting an immune response. Antigens have two functional properties: immunogenicity and reactivity. Immunogenicity is the ability of an antigen to stimulate a specific immune response. At the same time, reactivity describes the antigen's ability to react with the cells and antibodies produced in response to it.
Complete Antigens
Complete antigens possess both immunogenicity and...
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Development of Immunocompetence01:22

Development of Immunocompetence

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The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
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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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Hypersensitivity Reactions: Immune-Complex Reactions01:19

Hypersensitivity Reactions: Immune-Complex Reactions

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Type III hypersensitivity reactions occur when antigen–antibody complexes form and activate the complement system. Normally, these complexes help the clearance of antigens by phagocytes and red blood cells. However, when large numbers of immune complexes are present, they can deposit in tissues—particularly in the walls of blood vessels—leading to inflammation and tissue injury. These deposits trigger complement activation and neutrophil recruitment, resulting in serum...
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Interrogating Individual Autoreactive Germinal Centers by Photoactivation in a Mixed Chimeric Model of Autoimmunity
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The autoimmune conundrum in common variable immunodeficiency disorders.

Annick A J M van de Ven1, Klaus Warnatz

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Autoimmune diseases in patients with common variable immunodeficiency (CVID) are complex. New genetic insights are improving understanding and guiding targeted treatments for these challenging immune dysregulation cases.

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Autoimmune and inflammatory conditions pose significant challenges in managing common variable immunodeficiency (CVID).
  • Recent advances in understanding pathogenesis and potential therapies necessitate a re-evaluation of current management strategies.

Purpose of the Study:

  • To review the current understanding of autoimmune diseases (AID) in patients with CVID.
  • To explore the role of genetic defects in elucidating the interplay between primary immunodeficiency and autoimmunity.
  • To discuss the implications for diagnosis and treatment.

Main Methods:

  • Review of recent literature on genetic defects associated with CVID and autoimmune manifestations.
  • Analysis of immunopathological mechanisms underlying autoimmune diseases in CVID patients.
  • Evaluation of current and emerging treatment strategies.

Main Results:

  • Newly identified genetic defects, such as those in cytotoxic T lymphocyte-associated antigen 4 or caspase-9, clarify immune dysregulation in CVID-like phenotypes.
  • Activating signaling defects are linked to loss-of-tolerance, contributing to autoimmune disease development.
  • Forms of combined immunodeficiency are increasingly recognized in CVID-like patients, with varied immunopathology despite co-occurring autoimmune manifestations.

Conclusions:

  • Enhanced understanding of immunological drivers of AID in CVID facilitates improved and potentially targeted treatments.
  • Genetic diagnosis is crucial for identifying patients who may benefit from specific therapies or hematopoietic stem cell transplantation.