Current Clinical Microbiology Reports

, Volume 3, Issue 2, pp 81–91 | Cite as

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

  • Stacey A. Maskarinec
  • Melissa D. Johnson
  • John R. PerfectEmail author
Mycology (J Perfect, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Mycology


The development of severe fungal infections has long been associated with traditional risk factors such as profound immunosuppression, yet it remains challenging to understand why under similar conditions, only some patients will develop these infections while others will not. Recent studies have demonstrated the importance of host genetic variation in influencing the severity and susceptibility to invasive fungal infections. In this review, we examine selected primary immunodeficiencies characterized by their vulnerability to a narrow range of fungal pathogens and then focus on recently identified genetic polymorphisms associated with an increased susceptibility to invasive fungal infections.


Genetic susceptibility Single-nucleotide polymorphism Invasive Candida infection Invasive aspergillosis Cryptococcus 



This work was supported by 5T32-AI052080-12 (SAM) and AI 73896, AI 04533, and AI 93257 (JRP) from the NIH.

Author Contributions

All authors contributed to the literature review, writing, reading, and approving the manuscript.

Compliance with Ethical Standards

Conflict of Interest

Stacey Maskarinec reports grants from the National Institutes of Health, during the conduct of the study.

Melissa Johnson reports grants and personal fees from Astellas Pharma, grants from Charles River Laboratories, and personal fees from Up To Date, LLC outside the submitted work.

John Perfect reports grants from Astellas, other from Pfizer, grants from Merck, other from F2G, and grants from Scynexis during the conduct of the study.

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.


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Copyright information

© Springer International Publishing AG 2016

Authors and Affiliations

  • Stacey A. Maskarinec
    • 1
    • 2
  • Melissa D. Johnson
    • 1
    • 3
    • 4
  • John R. Perfect
    • 1
    • 2
    Email author
  1. 1.Division of Infectious Diseases and International Health, Department of MedicineDuke University Medical CenterDurhamUSA
  2. 2.Hanes HouseDurhamUSA
  3. 3.Department of Clinical ResearchCampbell University College of Pharmacy & Health SciencesBuies CreekUSA
  4. 4.Duke University Medical CenterDurhamUSA

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