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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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Antigens Involved in Adaptive Immunity01:26

Antigens Involved in Adaptive Immunity

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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
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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Diversity of Antigen Receptors01:28

Diversity of Antigen Receptors

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Antigen receptors are essential components of the immune system crucial in defending the body against foreign invaders. These receptors are present on the surface of B and T cells, enabling them to recognize antigens and mount an appropriate immune response.
Before encountering any antigen, lymphocytes express these receptors. On B cells, the antigen receptor is a membrane-bound antibody molecule called BCR; on T cells, it is a T cell receptor or TCR. B and T cell receptors are composed of two...
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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[Genetic basis of common variable immunodeficiency: from common to variable].

Abire Allaoui1, Khaoula Mokhantar2, Leila Jeddane2

  • 1Laboratoire d'immunologie clinique, inflammation et allergie, faculté de médecine et de pharmacie de Casablanca, Hassan-II University of Casablanca, Maroc, Laboratoire de pathologie cellulaire et moléculaire, faculté de médecine de Casablanca, Hassan-II University of Casablanca, Maroc.

Annales De Biologie Clinique
|October 27, 2021
PubMed
Summary

Common variable immunodeficiency (CVID) is a complex genetic disorder, not a single gene disease. Research is uncovering its polygenic nature for personalized treatments.

Keywords:
Antibody deficiencyCommon variable immune deficiency (CVID)GeneticsHypogammaglobulinemiaImmune deficiency diseaseNext generation sequencing (NGS)

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Common variable immunodeficiency (CVID) is a prevalent primary immunodeficiency.
  • Characterized by hypogammaglobulinaemia, infections, and poor vaccine responses.
  • Exhibits significant clinical, immunological, and genetic heterogeneity.

Purpose of the Study:

  • To review current knowledge on the genetic and molecular bases of CVID.
  • To discuss the application of genetic findings in clinical practice.
  • To highlight CVID as an umbrella term for distinct pathological entities.

Main Methods:

  • Review of current literature on CVID genetics and molecular mechanisms.
  • Discussion of advancements in genetic technologies like next-generation sequencing.
  • Emphasis on a multi-omic approach (genomics, epigenetics, proteomics).

Main Results:

  • CVID is increasingly recognized as a complex polygenic syndrome, not solely monogenic.
  • The number of identified genes associated with CVID is growing.
  • A multi-omic approach is crucial for understanding CVID pathophysiology.

Conclusions:

  • Understanding the genetic complexity of CVID is essential.
  • Integrative approaches will lead to more targeted and personalized therapies.
  • Further research into CVID's genetic and molecular underpinnings is vital for clinical practice.