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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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Introduction to Innate and Adaptive Immunity01:21

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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.
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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.
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Inborn Errors of Metabolism01:20

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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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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Updated: Oct 15, 2025

A Murine Model of Fetal Exposure to Maternal Inflammation to Study the Effects of Acute Chorioamnionitis on Newborn Intestinal Development
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Inborn errors of immunity: Recent progress.

Neha Seth1, Karen S Tuano1, Javier Chinen1

  • 1Division of Immunology, Allergy and Retrovirology, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, The Woodlands, Tex.

The Journal of Allergy and Clinical Immunology
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Advances in inborn errors of immunity (IEIs) include new gene discoveries, improved diagnostics, and effective treatments for conditions like primary antibody deficiencies and chronic granulomatous interstitial pneumonia.

Keywords:
B cellCOVID-19CVIDIEIPIDimmunodeficiency

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Inborn errors of immunity (IEIs) encompass a growing number of genetic defects impacting immune responses.
  • Diagnosis and management of IEIs have seen significant advancements, though challenges remain.

Purpose of the Study:

  • To review recent progress in the understanding, diagnosis, and management of inborn errors of immunity.
  • To highlight key findings in specific IEI types and the impact of the COVID-19 pandemic.

Main Methods:

  • Literature review of recent advances in IEI research.
  • Analysis of diagnostic yields and treatment efficacies for various IEI conditions.
  • Examination of the impact of COVID-19 on IEI patients.

Main Results:

  • 26 new gene defects reported in 2020; 9% of IEIs present without recurrent infections.
  • Molecular causes identified in 92% of severe combined immunodeficiency cases.
  • Effective treatments demonstrated for primary antibody deficiencies (antibiotic prophylaxis) and chronic granulomatous interstitial pneumonia (rituximab/azathioprine/mycophenolate).
  • Hematopoietic stem cell transplant efficacy and safety data reported for various IEIs.
  • COVID-19 pandemic disproportionately affected IEI patients, particularly those with interferon deficiencies; vaccines show potential for antibody response in some IEI patients.

Conclusions:

  • Significant progress in IEI understanding, diagnosis, and management, including novel therapies and transplant strategies.
  • Continued research is crucial for identifying new genetic defects and optimizing patient care.
  • The COVID-19 pandemic highlights the vulnerability of IEI patients and the need for further vaccine research in this population.