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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

3.1K
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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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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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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Cell-mediated Immune Responses01:40

Cell-mediated Immune Responses

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Overview
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Development of Immunocompetence01:22

Development of Immunocompetence

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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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Disorders of Leukocytes01:27

Disorders of Leukocytes

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Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
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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 Disorders.

Ivan K Chinn1, William T Shearer1

  • 1Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, 1102 Bates Avenue, Suite 330, Houston, TX 77030-2399, USA.

Immunology and Allergy Clinics of North America
|October 12, 2015
PubMed
Summary
This summary is machine-generated.

Severe combined immunodeficiency (SCID) is a pediatric emergency requiring prompt treatment. Early identification through newborn screening and timely hematopoietic stem cell transplant before 3.5 months improves survival for infants with SCID and congenital athymia.

Keywords:
DiGeorge anomalyGene therapyNewborn screeningSevere combined immunodeficiency diseaseTransplantation

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Area of Science:

  • Pediatric Immunology
  • Hematology
  • Genetics

Background:

  • Severe combined immunodeficiency (SCID) disorders are life-threatening pediatric emergencies.
  • These conditions stem from absent adaptive immune responses, caused by T-cell development defects (SCID) or congenital athymia (e.g., DiGeorge anomaly).

Purpose of the Study:

  • To highlight the critical nature of SCID and congenital athymia as pediatric emergencies.
  • To emphasize the importance of early diagnosis and treatment for improved patient survival.

Main Methods:

  • Review of existing literature on SCID and congenital athymia.
  • Analysis of treatment outcomes related to age at intervention.
  • Evaluation of the impact of newborn screening programs.

Main Results:

  • Hematopoietic stem cell transplant is the only approved cure for SCID.
  • Gene therapy research shows promising results for SCID treatment.
  • Optimal survival is achieved when transplant occurs before 3.5 months of age and prior to infection onset.

Conclusions:

  • Newborn screening programs are effective in early identification of SCID and congenital athymia.
  • Timely intervention, particularly hematopoietic stem cell transplant, is crucial for improving survival rates in affected infants.
  • Early detection and treatment are key to managing these severe pediatric immune deficiencies.