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Immunodeficiency Diseases

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 Disease

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 Immunocompetence

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 Immunity

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.
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Cell-mediated Immune Responses

Cell-mediated Immune Responses

Antigens Involved in Adaptive Immunity

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.

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Related Experiment Video

Updated: Jun 25, 2026

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

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

Published on: September 20, 2024

Common variable immunodeficiency.

Francisco A Bonilla¹, Raif S Geha

¹Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA. francisco.bonilla@childrens.harvard.edu

Pediatric Research

|February 5, 2009

Summary

This summary is machine-generated.

Common variable immunodeficiency (CVID) causes frequent infections due to low antibody levels. Recent studies identify genetic causes for some CVID subtypes, including mutations in inducible costimulator and CD19.

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Last Updated: Jun 25, 2026

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

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Published on: September 20, 2024

Development of an IFN-γ ELISpot Assay to Assess Varicella-Zoster Virus-specific Cell-mediated Immunity Following Umbilical Cord Blood Transplantation

Development of an IFN-γ ELISpot Assay to Assess Varicella-Zoster Virus-specific Cell-mediated Immunity Following Umbilical Cord Blood Transplantation

Published on: July 9, 2014

Area of Science:

Immunology
Genetics

Background:

Common variable immunodeficiency (CVID) is a primary antibody deficiency characterized by recurrent infections and hypogammaglobulinemia.
Distinct phenotypic subtypes of CVID have been identified through registry-based studies.
The underlying genetic or biochemical basis for most CVID cases remains elusive.

Purpose of the Study:

To review recent advances in understanding the genetic underpinnings of CVID.
To correlate specific genetic mutations with observed CVID phenotypes.
To identify novel genetic factors associated with CVID susceptibility.

Main Methods:

Analysis of registry data to define CVID phenotypes.
Genetic sequencing to identify mutations in candidate genes.
Correlation of genetic findings with clinical and immunological data.

Main Results:

Mutations in inducible costimulator (ICOS) and CD19 are identified as direct causes of CVID in approximately 1% of cases.
Polymorphisms in MSH5 and TACI are associated with CVID in 5-10% of patients.
These associated mutations may require additional genetic or environmental factors for full disease expression.

Conclusions:

Recent genetic discoveries are beginning to explain the etiology of specific CVID subtypes.
While ICOS and CD19 mutations are causative, MSH5 and TACI associations suggest complex genetic interactions in CVID pathogenesis.
Further research is needed to elucidate the genetic basis of CVID in the majority of affected individuals.