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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...
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...
Infectious Diseases and Their Occurrence01:28

Infectious Diseases and Their Occurrence

Infectious diseases appear in populations through various transmission patterns, influenced by pathogen characteristics, population immunity, environmental conditions, and social behavior. Understanding these patterns is essential for effective public health surveillance and intervention. These categories—sporadic, outbreak, epidemic, pandemic, and endemic—help frame the nature and scope of disease events.Sporadic diseases occur irregularly and infrequently, without a predictable temporal or...
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...
Smallpox01:24

Smallpox

Smallpox is a severe contagious disease caused by the Variola major virus, a double-stranded DNA member of the Poxviridae family.Variola major transmission occurs primarily via inhalation of virus-laden droplets or direct contact with infectious scabs. The incubation period averages approximately seven days, although it may range from 7 to 17 days depending on the inoculum and host factors.Clinically, the prodromal phase is marked by an abrupt onset of high fever, malaise, headache, and myalgia.
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...

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Whole Blood Assay with Dual Co-Stimulation for Antigen-Specific Analysis of Host Immunity to Fungal and Viral Pathogens
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Common variable immunodeficiency: an update on etiology and management.

Patrick F K Yong1, Michael Tarzi, Ignatius Chua

  • 1Department of Clinical Immunology, Kings College Hospital, London SE5 9RS, UK.

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Common variable immunodeficiency (CVID) is a complex disorder with varied causes and complications. Recent genetic discoveries advance understanding, but diagnostic delays persist for this primary antibody deficiency.

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Common variable immunodeficiency (CVID) is a heterogeneous primary antibody deficiency.
  • Characterized by recurrent infections and inflammatory, granulomatous, and autoimmune issues.
  • Significant diagnostic delays remain a challenge in CVID management.

Purpose of the Study:

  • To review recent advances in understanding CVID pathogenesis.
  • To highlight progress in clinical care, treatment, and classification.
  • To address the ongoing challenge of delayed diagnosis in CVID.

Main Methods:

  • Review of recent scientific literature on CVID.
  • Analysis of identified genetic mutations associated with CVID phenotype.
  • Evaluation of current clinical care strategies and classification schemes.

Main Results:

  • Five genetic mutations have been identified in CVID patients.
  • Progress in treatment refinements and development of classification schemes.
  • Despite advances, significant delays in diagnosis are still common.

Conclusions:

  • Understanding of CVID pathogenesis is rapidly evolving with genetic discoveries.
  • Clinical management and classification have improved.
  • Further identification of genetic defects is expected, reducing undiagnosed CVID cases.