Genetic Susceptibility to Fungal Infections: What is in the Genes?

Stacey A Maskarinec1, Melissa D Johnson2, John R Perfect1

  • 1Division of Infectious Diseases and International Health, Department of Medicine Duke University Medical Center Durham, NC, USA; Hanes House Box 102359, Durham, NC 27710.

Insights

Host genetic variation influences susceptibility to invasive fungal infections (IFIs). This review explores primary immunodeficiencies and genetic polymorphisms linked to increased risk of IFIs, even with traditional risk factors present.

Area of Science:

  • Immunology
  • Medical Genetics
  • Mycology

Background:

  • Severe fungal infections are a significant clinical challenge.
  • Traditional risk factors like immunosuppression do not fully explain differential susceptibility to invasive fungal infections (IFIs).
  • Host genetic variation is increasingly recognized as a key determinant of IFI outcomes.

Purpose of the Study:

  • To review primary immunodeficiencies associated with specific fungal pathogen vulnerabilities.
  • To highlight recently identified genetic polymorphisms that increase susceptibility to IFIs.
  • To bridge the understanding between genetic predisposition and IFI development.

Main Methods:

  • Literature review of primary immunodeficiencies and fungal infections.
  • Analysis of recent genetic studies identifying polymorphisms.
  • Synthesis of information on host genetics and IFI susceptibility.

Main Results:

  • Certain primary immunodeficiencies confer specific vulnerabilities to fungal pathogens.
  • Several genetic polymorphisms have been linked to increased risk of IFIs.
  • Host genetics play a crucial role in determining IFI development beyond traditional risk factors.

Conclusions:

  • Understanding host genetic factors is critical for predicting and managing IFIs.
  • Genetic screening may offer new avenues for personalized risk assessment.
  • Further research into host-pathogen-genetic interactions is warranted.

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