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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,...
Cell-mediated Immune Responses01:40

Cell-mediated Immune Responses

Overview
B Cell Activation and Differentiation01:24

B Cell Activation and Differentiation

The adaptive immune response, a sophisticated defense mechanism, relies on the activation and differentiation of B lymphocytes, or B cells. These processes enable our bodies to mount a tailored response against specific pathogens such as bacteria, free virus particles, toxins, and parasites.
When naive B cells encounter a specific antigen that can bind to the B cell receptor (BCR) on their surface, they undergo sensitization to respond to the antigen's presence. Sensitization begins with...
Defense Against Bacterial Pathogens01:31

Defense Against Bacterial Pathogens

The human immune system is a complex network of cells, tissues, and organs that work together to defend the body against bacterial infections. It consists of various immune cells, each playing a specific role in the defense mechanism.
Phagocytes
Phagocytes are the frontline soldiers of the immune system. They include neutrophils and macrophages. Neutrophils are the most abundant type of white blood cell and are quickly mobilized to the site of infection. Macrophages are larger cells that patrol...
Cells of the Adaptive Immune Response01:23

Cells of the Adaptive Immune Response

The T and B lymphocytes of the adaptive immune system develop from common lymphoid progenitor cells in the bone marrow. These progenitors give rise to precursors that eventually develop into both T and B lymphocytes. As these precursors mature, they gain the ability to detect and respond to foreign antigens in the body, a process known as immunocompetence. Additionally, these precursors acquire self-tolerance, a process that ensures they do not react to self-antigens. This intricate system...

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Related Experiment Video

Updated: Jun 24, 2026

Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR
14:14

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Primary B cell immunodeficiencies: comparisons and contrasts.

Mary Ellen Conley1, A Kerry Dobbs, Dana M Farmer

  • 1Department of Pediatrics, University of Tennessee College of Medicine, Memphis, Tennessee 38163, USA. maryellen.conley@stjude.org

Annual Review of Immunology
|March 24, 2009
PubMed
Summary

Genetic discoveries have identified key genes causing immunodeficiencies, particularly affecting B cell development and Hyper-IgM syndromes. Understanding genetic and environmental factors is crucial for improving patient care and B cell biology insights.

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Published on: May 31, 2020

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Significant advancements in genetic tools have identified genes responsible for numerous immunodeficiencies over the last 15 years.
  • Mutations in key genes like Btk, BLNK, CD40 ligand, and AID are implicated in early B cell development defects and Hyper-IgM syndromes.
  • Rare genetic defects can mimic common variable immunodeficiency, highlighting the complexity of these disorders.

Purpose of the Study:

  • To review the genetic basis of well-characterized immunodeficiencies.
  • To understand the genetic factors contributing to B cell development defects and Hyper-IgM syndromes.
  • To explore the influence of genetic and environmental factors on clinical heterogeneity in immunodeficiencies.

Main Methods:

  • Review of genetic findings in immunodeficiency research over the past 15 years.
  • Analysis of mutations in genes critical for B cell receptor signaling and immune regulation.
  • Examination of genotype-phenotype correlations in patients with various immunodeficiencies.

Main Results:

  • Mutations in Btk, pre-B cell/B cell receptor components, and BLNK explain ~90% of early B cell development defects.
  • Mutations in CD40 ligand, CD40, AID, or UNG account for 70-80% of Hyper-IgM syndromes.
  • Heterozygous substitutions in TACI are found in up to 10% of common variable immunodeficiency patients, with significant clinical heterogeneity observed across disorders.

Conclusions:

  • Genetic identification has greatly advanced the understanding of immunodeficiencies.
  • Clinical heterogeneity underscores the need to investigate genetic and environmental modifiers.
  • Further research into these factors will enhance patient management and knowledge of B cell development.