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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

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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Special Features of Adaptive Immunity01:20

Special Features of Adaptive Immunity

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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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Primary Lymphoid Organs01:16

Primary Lymphoid Organs

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Primary lymphoid organs are pivotal in the formation, development, and maturation of lymphocytes, the white blood cells that serve as the backbone of our immune system. This crucial function underscores their fundamental role in maintaining our overall health and immunity. The two primary lymphoid organs of prime importance are the red bone marrow and the thymus.
The red bone marrow is a soft, spongy tissue nestled in the interior of long bones such as the humerus and femur. It is the site...
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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
Complete antigens possess both immunogenicity and...
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Microorganisms in Medicine and Therapeutics01:29

Microorganisms in Medicine and Therapeutics

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Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
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Interview: Glycolipid Antigen Presentation by CD1d and the Therapeutic Potential of NKT cell Activation
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New primary immunodeficiencies 2021 context and future.

Yesim Demirdag1, Ramsay Fuleihan2, Jordan S Orange2,3

  • 1Division of Basic and Clinical Immunology, Department of Medicine, University of California, Irvine, Irvine, CA, USA.

Current Opinion in Pediatrics
|October 20, 2021
PubMed
Summary
This summary is machine-generated.

New genetic discoveries have expanded the classification of inborn errors of immunity (IEI), also known as primary immunodeficiency diseases (PIDs). These advances improve our understanding of immune system function and disease, guiding future management strategies.

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Area of Science:

  • Immunology
  • Genetics
  • Infectious Disease

Background:

  • Primary immunodeficiency diseases (PIDs), or inborn errors of immunity (IEI), are genetic disorders causing increased infection susceptibility or immune dysregulation.
  • The International Union of Immunologic Societies (IUIS) classification of IEIs has been significantly updated.
  • Genetic testing is increasingly vital for diagnosing and understanding these complex conditions.

Purpose of the Study:

  • To review and highlight new IEI disorders from the 2019 IUIS report and 2020 interim report.
  • To discuss future directions in the management of PIDs.
  • To emphasize the impact of novel IEI discoveries on understanding immune system function.

Main Methods:

  • Review of the latest IUIS classification reports (2019 and 2020 interim).
  • Analysis of recent advancements in genetic testing and variant evaluation.
  • Consideration of immune susceptibilities observed during the COVID-19 pandemic.

Main Results:

  • Since 2017, 88 new gene defects and 75 new IEI disorders have been identified.
  • Genetic testing has revealed novel IEI disorders and additional genetic causes for known conditions.
  • Defects in Type I interferon signaling are implicated in severe disease, particularly in the context of COVID-19.

Conclusions:

  • The rapid identification of new IEIs reflects the growing importance of genetic testing in medical practice.
  • Elucidating the pathophysiology of novel IEIs enhances our understanding of immune system modulation by genetic mutations.
  • These findings are crucial for advancing the diagnosis, management, and research of primary immunodeficiency diseases.