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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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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...
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Development of Immunocompetence01:22

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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...
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Cytomegalovirus Disease01:27

Cytomegalovirus Disease

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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...
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Special Features of Adaptive Immunity01:20

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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,...
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Hypersensitivity Reactions: Immune-Complex Reactions01:19

Hypersensitivity Reactions: Immune-Complex Reactions

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Type III hypersensitivity reactions occur when antigen–antibody complexes form and activate the complement system. Normally, these complexes help the clearance of antigens by phagocytes and red blood cells. However, when large numbers of immune complexes are present, they can deposit in tissues—particularly in the walls of blood vessels—leading to inflammation and tissue injury. These deposits trigger complement activation and neutrophil recruitment, resulting in serum...
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Immunological Memory01:23

Immunological Memory

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Immunological memory, a pivotal pillar of the adaptive immune system, is responsible for the body's ability to remember and respond more swiftly and effectively to previously encountered pathogens. This remarkable feature is what makes vaccines so effective in preventing diseases.
What is Immunological Memory?
Immunological memory is an integral function of the immune system that allows it to recognize and react more rapidly and effectively to pathogens previously encountered. This feature...
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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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Severe combined immunodeficiency--an update.

Emilia Cirillo1, Giuliana Giardino1, Vera Gallo1

  • 1Department of Translational Medical Sciences, Pediatrics Section,  Federico II University, Naples, Italy.

Annals of the New York Academy of Sciences
|August 4, 2015
PubMed
Summary
This summary is machine-generated.

Severe combined immunodeficiencies (SCIDs) are rare genetic disorders causing life-threatening immune system failure. Recent discoveries reveal novel SCID forms with complex, extra-immunological symptoms, complicating diagnosis and treatment.

Keywords:
DiGeorge syndromeSCIDcytokinenude/SCIDprimary immunodeficiencysevere combined immunodeficiencythymus

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Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Severe combined immunodeficiencies (SCIDs) are inherited disorders causing critical immune system dysfunction.
  • SCID is a severe form of primary immunodeficiency, often fatal within two years without treatment.
  • Traditional classification relies on affected pathways or immunologic phenotypes.

Purpose of the Study:

  • To review the biological and clinical features of SCIDs.
  • To highlight recently identified SCID forms.
  • To focus on unusual or extra-immunological manifestations of SCID.

Main Methods:

  • Literature review of SCID research.
  • Analysis of genetic alterations and associated phenotypes.
  • Examination of clinical and immunological data.

Main Results:

  • New causative gene alterations in SCID have been identified.
  • These novel forms often present with unusual immunological and extra-hematopoietic alterations.
  • Complex phenotypes can lead to delayed diagnosis.

Conclusions:

  • SCID classification is evolving with new genetic discoveries.
  • Extra-immunological features are crucial for understanding and diagnosing SCID.
  • Further research is needed for novel SCID forms and their management.