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Genetic Variation and Fungal Infection Risk: State of the Art

  • Michail S. LionakisEmail author
Epidemiology of Fungal Infections (T Chiller and J Baddley, Section Editors)
  • 12 Downloads
Part of the following topical collections:
  1. Topical Collection on Epidemiology of Fungal Infections

Abstract

Purpose of Review

Fungal infections cause significant mortality in patients with acquired immunodeficiencies including AIDS, hematological malignancies, transplantation, and receipt of corticosteroids, biologics or small-molecule kinase inhibitors that impair key immune pathways. The contribution of several such pathways in antifungal immunity has been uncovered by inherited immunodeficiencies featuring profound fungal susceptibility. Furthermore, the risk of fungal infection in patients with acquired immunodeficiencies may be modulated by single nucleotide polymorphisms (SNPs) in immune-related genes. This review outlines key features underlying human genetic fungal infection predisposition.

Recent Findings

The discovery of monogenic disorders that cause fungal disease and the characterization of immune-related gene SNPs that may regulate fungal susceptibility have provided important insights into how genetic variation affects development and outcome of fungal infections in humans.

Summary

Recognition of individualized genetic fungal susceptibility traits in humans should help devise precision-medicine strategies for risk assessment, prognostication, and treatment of patients with opportunistic fungal infections.

Keywords

Fungal infection Inherited immunodeficiency Single nucleotide polymorphisms Candidiasis Aspergillosis Genetic 

Notes

Funding Information

This work was supported by the Division of Intramural Research of the National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH).

Compliance with Ethical Standards

Conflict of Interest

Michail S. Lionakis declare no conflicts of interest relevant to this manuscript.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

References

Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2019

Authors and Affiliations

  1. 1.Fungal Pathogenesis Section, Laboratory of Clinical Immunology & Microbiology (LCIM), National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH)BethesdaUSA

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