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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...
Cytomegalovirus Disease01:27

Cytomegalovirus Disease

Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
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...
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,...
Respiratory Syncytial Virus Disease01:29

Respiratory Syncytial Virus Disease

Human respiratory syncytial virus (RSV) is a widespread pathogen that primarily targets infants and young children but also poses a serious health risk to elderly and immunocompromised individuals. Belonging to the Pneumoviridae family, RSV is a negative-sense, single-stranded RNA virus within the Pneumovirus genus. Its global health burden is significant, with millions of cases annually resulting in hospitalizations and mortality, particularly in resource-limited settings. Although most...
Cell-mediated Immune Responses01:40

Cell-mediated Immune Responses

Overview

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Separation of Immune Cell Subpopulations in Peripheral Blood Samples from Children with Infectious Mononucleosis
08:44

Separation of Immune Cell Subpopulations in Peripheral Blood Samples from Children with Infectious Mononucleosis

Published on: September 7, 2022

Common variable immunodeficiency in children.

Erik Glocker1, Stephan Ehl, Bodo Grimbacher

  • 1Department of Immunology and Molecular Pathology, University College London Royal Free Hospital, London, UK.

Current Opinion in Pediatrics
|November 21, 2007
PubMed
Summary
This summary is machine-generated.

Common variable immunodeficiency (CVID) is a primary immunodeficiency with varied symptoms. Recent genetic studies identified mutations in five genes, improving diagnostic potential for this heterogeneous condition.

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Separation of Immune Cell Subpopulations in Peripheral Blood Samples from Children with Infectious Mononucleosis
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Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR
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Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR

Published on: December 6, 2014

Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Common variable immunodeficiency (CVID) is the most prevalent primary immunodeficiency requiring medical intervention.
  • CVID presents with diverse clinical phenotypes, often with onset peaks in childhood (5-10 years) and early adulthood (20-30 years).

Purpose of the Study:

  • To outline the clinical phenotypes associated with CVID.
  • To review recent advancements in understanding the genetic underpinnings of CVID.
  • To discuss current therapeutic approaches for CVID management.

Main Methods:

  • Review of clinical presentations and diagnostic criteria for CVID.
  • Analysis of recent genetic linkage studies and identified gene mutations in CVID patients.
  • Compilation of established and emerging treatment strategies for CVID.

Main Results:

  • Five specific genes (ICOS, CD19, TNFRSF13B, TNFRSF13C, MSH5) have been identified with mutations in CVID patients.
  • Genetic linkage studies have identified additional loci on chromosomes 4q and 16q associated with autosomal dominant forms of CVID.
  • These genetic findings highlight the molecular heterogeneity of CVID and underscore the importance of genetic diagnostics.

Conclusions:

  • CVID should be considered in young patients experiencing recurrent bacterial infections.
  • Comprehensive work-up, including family history, is crucial for diagnosing CVID and related conditions like selective IgA deficiency.
  • Further research is necessary to identify additional susceptibility genes, as current genetic defects explain only a subset of CVID cases.