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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.
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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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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.
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Primary Immunodeficiencies with Elevated IgE.

Trine H Mogensen1

  • 1a Department of Infectious Diseases, International Center for Immunodeficiency Diseases (ICID) , Aarhus University Hospital , Skejby , Aarhus , Denmark.

International Reviews of Immunology
|May 14, 2015
PubMed
Summary

Primary immunodeficiencies (PIDs) with high Immunoglobulin E (IgE) levels, known as Hyper-IgE syndrome (HIES), involve recurrent infections and non-infectious symptoms. Genetic causes are being identified, but new etiologies for HIES are still being discovered.

Keywords:
DOCK8JAK-STAT signalingSTAT3TYK2atypical mycobacteriosischronic mucocutaneous candidiasisherpes virus infectionshyper-IgE syndromeprimary immunodeficiencystaphylococcus aureus

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Primary immunodeficiencies (PIDs) encompass a group of disorders characterized by defects in the immune system.
  • Hyper-IgE syndrome (HIES) is a subset of PIDs defined by elevated serum IgE levels.
  • HIES presents with recurrent infections, particularly by staphylococci and fungi, and a non-infectious phenotype.

Purpose of the Study:

  • To review the current understanding of Hyper-IgE syndrome (HIES) and other primary immunodeficiencies (PIDs) with elevated Immunoglobulin E (IgE).
  • To discuss the clinical manifestations, infectious patterns, and genetic and immunological underpinnings of HIES.
  • To highlight emerging insights into the pathogenesis and management of these complex disorders.

Main Methods:

  • Literature review of recent advancements in the field of Hyper-IgE syndrome.
  • Synthesis of information on clinical presentation, infectious phenotypes, and genetic mutations associated with HIES.
  • Analysis of immunological pathways and their role in the pathogenesis of HIES.

Main Results:

  • Several genes, including STAT3, DOCK8, TYK2, and PGM3, have been identified as causes of HIES.
  • Despite genetic discoveries, some patients with HIES phenotype lack identified mutations, suggesting undiscovered genetic etiologies.
  • Understanding the immunological basis of HIES provides insights into protective immunity and disease pathogenesis.

Conclusions:

  • Hyper-IgE syndromes are a heterogeneous group of primary immunodeficiencies with diverse genetic causes.
  • Continued research is crucial for identifying novel genetic etiologies and improving the clinical management of HIES patients.
  • Advances in understanding HIES contribute to fundamental immunology and protective immunity principles.