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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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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.
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T Cell Activation and Clonal Selection01:22

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T cells are integral to our adaptive immune system, recognizing and effectively responding to foreign antigens. T cell activation and clonal selection are pivotal in orchestrating this immune response. This article elucidates these mechanisms, detailing the roles of cluster of differentiation (CD) markers, major histocompatibility complex (MHC) molecules, costimulatory signals, and the process of clonal selection.
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T Cell Types and Functions01:24

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When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
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Detection of Polyfunctional T Cells in Children Vaccinated with Japanese Encephalitis Vaccine via the Flow Cytometry Technique
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Combined immunodeficiencies with nonfunctional T lymphocytes.

Luigi D Notarangelo1

  • 1Division of Immunology and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Stem Cell Institute, Harvard Medical School, Boston, Massachusetts, USA.

Advances in Immunology
|January 7, 2014
PubMed
Summary

Discover immunodeficiencies impacting T cell function, not development. These genetic defects increase infection risk, autoimmunity, and malignancy, offering insights into immune homeostasis mechanisms.

Keywords:
Immune dysregulationImmune homeostasisImmunodeficiencyLymphocyte differentiationSignalingT lymphocytesThymus

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Immunodeficiencies with nonfunctional T cells present a complex group of disorders.
  • These conditions are marked by impaired T lymphocyte function despite normal T cell development.
  • Genetic defects identified through advanced sequencing alter T cell function and homeostasis.

Purpose of the Study:

  • To explore the genetic underpinnings of T cell functional immunodeficiencies.
  • To understand the mechanisms governing T cell homeostasis in health and disease.
  • To investigate the link between T cell dysfunction, autoimmunity, and malignancy risk.

Main Methods:

  • Analysis of human genome sequencing data.
  • Characterization of novel genetic defects affecting T cell function.
  • Study of associated clinical phenotypes, including infections, autoimmunity, and malignancies.
  • Investigation using relevant animal models.

Main Results:

  • Identification of novel genetic defects leading to nonfunctional T cells.
  • Demonstration that these defects alter T cell function and homeostasis without impairing development.
  • Association of these conditions with increased susceptibility to infections, autoimmunity, and malignancy.
  • Insights gained into the regulation of immune homeostasis.

Conclusions:

  • Nonfunctional T cell immunodeficiencies represent a distinct category of immune disorders.
  • Genetic defects targeting T cell function are crucial for immune homeostasis.
  • Understanding these conditions provides fundamental insights into immune regulation and disease pathogenesis.