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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.
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Development of Immunocompetence01:22

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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.
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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.
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Inborn errors of immunity (primary immunodeficiencies).

Vy H D Kim1, Julia E M Upton2,3, Beata Derfalvi4

  • 1Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, Temerty School of Medicine, University of Toronto, Toronto, ON, Canada. vy.kim@sickkids.ca.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology
|January 9, 2025
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Summary
This summary is machine-generated.

Inborn errors of immunity (IEI), formerly primary immunodeficiencies, encompass diverse disorders affecting immune development and function. Early diagnosis and comprehensive management are crucial for mitigating severe health consequences.

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Inborn errors of immunity (IEI), previously primary immunodeficiencies (PID), represent a broad spectrum of genetic disorders impacting immune system development and function.
  • IEIs are classified into adaptive and innate immune system disorders, with varied clinical presentations beyond increased infection susceptibility.

Purpose of the Study:

  • To provide an overview of major IEI categories.
  • To discuss strategies for diagnosis and management of IEIs.

Main Methods:

  • Literature review of IEI classifications.
  • Synthesis of current diagnostic and therapeutic approaches.

Main Results:

  • IEIs encompass disorders of adaptive immunity (e.g., combined, humoral) and innate immunity (e.g., phagocyte, complement).
  • Beyond infections, IEIs can manifest as atopy, autoimmunity, autoinflammation, lymphoproliferation, and malignancy due to immune dysregulation.

Conclusions:

  • Timely diagnosis and intervention by clinical immunologists are vital for reducing IEI-associated morbidity and mortality.
  • Management involves supportive care (e.g., immunoglobulin replacement, antibiotics) and definitive treatments (e.g., HSCT).