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Related Concept Videos

Special Features of Adaptive Immunity01:20

Special Features of Adaptive Immunity

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,...
Antigens Involved in Adaptive Immunity01:26

Antigens Involved in Adaptive Immunity

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 reactivity.
Immunological Memory01:23

Immunological Memory

Immunological memory, a pivotal pillar of the adaptive immune system, is responsible for the body's ability to remember and respond more swiftly and effectively to previously encountered pathogens. This remarkable feature is what makes vaccines so effective in preventing diseases.
What is Immunological Memory?
Immunological memory is an integral function of the immune system that allows it to recognize and react more rapidly and effectively to pathogens previously encountered. This feature is...
Development of Immunocompetence01:22

Development of Immunocompetence

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...
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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 disorders...
Infectious Diseases and Their Occurrence01:28

Infectious Diseases and Their Occurrence

Infectious diseases appear in populations through various transmission patterns, influenced by pathogen characteristics, population immunity, environmental conditions, and social behavior. Understanding these patterns is essential for effective public health surveillance and intervention. These categories—sporadic, outbreak, epidemic, pandemic, and endemic—help frame the nature and scope of disease events.Sporadic diseases occur irregularly and infrequently, without a predictable temporal or...

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New Tools to Expand Regulatory T Cells from HIV-1-infected Individuals
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Common Variable Immunodeficiency Disorders: A perspective from New Zealand.

Rohan Ameratunga1,2,3, Hilary J Longhurst4,5,6, Klaus Lehnert7,8

  • 1Department of Clinical Immunology, Auckland Hospital, Park Rd, Grafton, 1010, Auckland, New Zealand. rohana@adhb.govt.nz.

Clinical Reviews in Allergy & Immunology
|December 1, 2025
PubMed
Summary

Common Variable Immunodeficiency Disorders (CVID) and CVID-like disorders are increasingly diagnosed using genetic testing. New Zealand studies identified novel genetic variants impacting immune function, improving diagnostic precision for these rare primary immunodeficiencies.

Keywords:
Common Variable Immunodeficiency DisordersEpistasisHypogammaglobulinemiaSCIG/IVIGTransient Hypogammaglobulinemia of InfancyVaccine Challenge Responses

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06:03

Whole Blood Assay with Dual Co-Stimulation for Antigen-Specific Analysis of Host Immunity to Fungal and Viral Pathogens

Published on: September 20, 2024

Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Common Variable Immunodeficiency Disorders (CVID) are the most frequent symptomatic primary immunodeficiencies (PIDs) in adults and children, characterized by antibody deficiency and variable cellular immune impairment.
  • Historically a diagnosis of exclusion, CVID diagnosis has improved with new criteria, aiding treatment decisions like immunoglobulin replacement therapy (SCIG/IVIG).
  • Advances in genetic sequencing reveal underlying genetic defects in many CVID cases, reclassifying them as CVID-like disorders due to specific Inborn Errors of Immunity (IEI).

Purpose of the Study:

  • To review the current understanding of CVID and CVID-like disorders.
  • To highlight insights from New Zealand-based clinical and genomic studies on PIDs.
  • To examine diagnostic uncertainties in these rare conditions.

Main Methods:

  • Review of three New Zealand studies: Prospective NZ CVID sub-study, NZ hypogammaglobulinemia sub-study, and a retrospective case series of Transient Hypogammaglobulinemia of Infancy (THI).
  • Analysis of clinical and genomic data to understand PID complexities.
  • Focus on genetic variant identification and diagnostic criteria.

Main Results:

  • Identification of two novel autosomal dominant pathogenic variants (NFKB1 and TCF3) causing CVID-like disorders in New Zealand families.
  • Discovery of an epistatic interaction between TCF3 and TNFRSF13B (TACI) in a digenic CVID-like disorder.
  • Clinical and genomic studies provided insights into the complexities of rare PIDs.

Conclusions:

  • Genetic testing is crucial for precise diagnosis of CVID and CVID-like disorders.
  • Understanding genetic defects and interactions like epistasis refines diagnostic and treatment strategies.
  • Continued research is needed to address diagnostic uncertainties in rare primary immunodeficiencies.