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Related Concept Videos

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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Introduction to Innate and Adaptive Immunity01:21

Introduction to Innate and Adaptive Immunity

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The human immune system is a complex defense mechanism that protects the body from harmful pathogens and foreign substances. It comprises two crucial components: innate and adaptive immunity.
Innate immunity is the body's natural, nonspecific defense system that acts quickly to protect against pathogens. It incorporates physical barriers like skin and mucous membranes and cellular elements such as phagocytes and natural killer cells. This part of our immune system provides an immediate,...
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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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Humoral Immune Responses01:36

Humoral Immune Responses

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Overview
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Mismatch Repair01:20

Mismatch Repair

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
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Factors Affecting the Risk of Infection01:26

Factors Affecting the Risk of Infection

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The hosts' susceptibility to infection depends on several factors. The integrity of the skin and mucous membranes helps protect the body against microbial attacks. When the skin is altered, the chance of infection, limb loss, and even death increases.
The integrity and count of the white blood cells help the body resist pathogens and fight infection. When impaired, it reduces the body's resistance to pathogens. The acidic pH levels of the gastrointestinal, genitourinary tracts, and skin...
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Updated: Jun 4, 2025

A Neonatal Imaging Model of Gram-Negative Bacterial Sepsis
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Update on inborn errors of immunity.

Hanna IJspeert1, Emily S J Edwards2, Robyn E O'Hehir2

  • 1Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

The Journal of Allergy and Clinical Immunology
|December 26, 2024
PubMed
Summary
This summary is machine-generated.

Recent advances in inborn errors of immunity (IEI) focus on improved diagnosis, new genetic defects, and personalized treatments. Enhanced understanding of IEI is crucial for better patient outcomes and managing infections like severe coronavirus disease 2019.

Keywords:
Inborn errors of immunityJAK inhibitorPI3K inhibitorSTAT6V(D)J recombinationdiagnosisgene therapyhematopoietic stem cell transplantationnewborn screening

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Inborn errors of immunity (IEI), formerly known as inherited immunodeficiencies, have seen rapid advancements since their initial description.
  • The field integrates molecular biology, genetics, immune signaling, and clinical care, necessitating continuous updates.

Purpose of the Study:

  • To highlight key research updates in IEI from 2022-24.
  • To focus on diagnostic and screening advancements, novel genetic defects, and susceptibility to severe coronavirus disease 2019 (COVID-19) and vaccination impact.
  • To review progress in treatment strategies for IEI.

Main Methods:

  • Review and synthesis of recent research findings in inborn errors of immunity.
  • Selection of significant updates across diagnosis, genetics, COVID-19 susceptibility, and treatment.
  • Emphasis on the link between pathogenic insights and improved clinical outcomes.

Main Results:

  • Significant progress in diagnosis and screening methods for IEI.
  • Identification of new genetic defects contributing to immune system disorders.
  • Insights into susceptibility to severe COVID-19 and the role of vaccination in IEI patients.
  • Development of novel, personalized treatment approaches informed by genetic and pathogenic understanding.

Conclusions:

  • Advances in understanding IEI are rapidly translating into improved diagnostic accuracy and personalized treatments.
  • Earlier and more precise diagnoses significantly impact treatment efficacy and patient outcomes.
  • The rapid growth of the field underscores the importance of awareness, communication, and collaboration among researchers and clinicians to enhance patient care and outcomes.