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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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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.
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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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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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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Characterization of Thymus-dependent and Thymus-independent Immunoglobulin Isotype Responses in Mice Using Enzyme-linked Immunosorbent Assay
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Inborn errors of immunity in adulthood.

Joanne J F Wang1, Arün Dhir1, Kyla J Hildebrand2

  • 1Department of Medicine, University of British Columbia, Vancouver, Canada.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
|January 17, 2024
PubMed
Summary
This summary is machine-generated.

Inborn errors of immunity (IEIs) affect adults more than previously thought, often leading to delayed diagnosis. This primer aids clinicians in recognizing and managing diverse adult IEI presentations for better patient outcomes.

Keywords:
AdulthoodDiagnosisEvaluationInborn error of immunityPrimary immunodeficiency

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Area of Science:

  • Immunology
  • Genetics
  • Internal Medicine

Background:

  • Inborn errors of immunity (IEIs) are increasingly recognized in adults, with over 50% of cases occurring in this demographic.
  • Delayed diagnosis, late symptom onset, and phenocopies contribute to the underdiagnosis of IEIs in adults.
  • Limited awareness of diverse adult IEI manifestations hinders timely diagnosis and treatment.

Purpose of the Study:

  • To provide a comprehensive overview of IEIs in adulthood.
  • To enhance clinician recognition and management of adult-onset IEIs.
  • To offer a framework for laboratory evaluation and initial treatment of IEIs in adults.

Main Methods:

  • Review of pathophysiology, epidemiology, and clinical features of IEIs in adults.
  • Presentation of clinical vignettes for three key IEIs.
  • Development of a framework for laboratory evaluation and initial treatment.

Main Results:

  • Adult-onset IEIs are common and present with diverse manifestations.
  • Clinical vignettes illustrate key presentations to aid in diagnosis.
  • A structured approach to evaluation and treatment is proposed.

Conclusions:

  • Increased awareness and prompt referral to immunology are crucial for adult IEI patients.
  • Precise molecular diagnosis and targeted therapies improve patient outcomes.
  • This primer aims to improve the recognition and management of IEIs in adult populations.