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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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 disorders...
Special Features of Adaptive Immunity01:20

Special Features of Adaptive Immunity

The adaptive immune system, a crucial component of the overall immune response, offers a highly specialized defense against pathogens. It involves specific cell types and features, enabling it to combat infections effectively and efficiently.
The primary cell types involved in adaptive immunity are T cells and B cells. Each type has a unique role in defending the body against pathogens. T cells are responsible for cell-mediated immunity. They identify and eliminate infected cells directly,...
Development of Immunocompetence01:22

Development of Immunocompetence

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...
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...
Antigens Involved in Adaptive Immunity01:26

Antigens Involved in Adaptive Immunity

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 reactivity.
Humoral Immune Responses01:36

Humoral Immune Responses

Overview

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Related Experiment Video

Updated: May 25, 2026

Whole Blood Assay with Dual Co-Stimulation for Antigen-Specific Analysis of Host Immunity to Fungal and Viral Pathogens
06:03

Whole Blood Assay with Dual Co-Stimulation for Antigen-Specific Analysis of Host Immunity to Fungal and Viral Pathogens

Published on: September 20, 2024

Perspectives on common variable immune deficiency.

Joon H Park1, Elena S Resnick, Charlotte Cunningham-Rundles

  • 1Department of Medicine and the Immunology Institute, Mount Sinai School of Medicine, New York, New York, USA.

Annals of the New York Academy of Sciences
|January 13, 2012
PubMed
Summary
This summary is machine-generated.

Common variable immunodeficiency (CVID) involves complex genetic immune defects affecting B cell function. Research is actively uncovering the elusive genetic causes through various genomic studies.

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Single-cell Analysis of Immunophenotype and Cytokine Production in Peripheral Whole Blood via Mass Cytometry

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Area of Science:

  • Immunology
  • Genetics
  • Human Disease

Background:

  • Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by impaired B cell function and antibody production.
  • The genetic underpinnings of CVID are complex and largely remain unidentified, hindering effective diagnosis and treatment.
  • Despite significant research, the majority of genetic mechanisms contributing to CVID are still elusive.

Purpose of the Study:

  • To provide a comprehensive overview of the current understanding of the genetic basis of CVID.
  • To summarize the evolution of genetic research methodologies applied to CVID.
  • To highlight the progress made in identifying genetic defects associated with CVID.

Main Methods:

  • Review of genetic studies including linkage analysis in large cohorts.
  • Analysis of families with recessive inheritance patterns.
  • Integration of data from targeted gene approaches, genome-wide association studies (GWAS) using SNP arrays and copy number variation (CNV) analysis, and whole genome studies.

Main Results:

  • Identification of various genetic defects contributing to CVID through diverse genomic approaches.
  • Demonstration of the utility of advanced genomic technologies in unraveling complex genetic disorders.
  • Progress in understanding the heterogeneity of genetic causes underlying CVID phenotypes.

Conclusions:

  • The genetic basis of CVID is complex and multifactorial, involving a spectrum of identified and yet-to-be-discovered genetic defects.
  • Continued application of advanced genomic technologies is crucial for fully elucidating the genetic architecture of CVID.
  • A deeper understanding of CVID genetics will facilitate improved diagnostic strategies and personalized therapeutic interventions.