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Mendelian genetics of human susceptibility to fungal infection

Michail S Lionakis1, Mihai G Netea2, Steven M Holland3

  • 1Fungal Pathogenesis Unit, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892.

Cold Spring Harbor Perspectives in Medicine
|June 4, 2014
PubMed

Insights

Newly identified genetic immune disorders reveal key cellular and molecular pathways for fighting fungal infections. Studying these inborn errors of immune function offers insights for developing new antifungal therapies.

Area of Science:

  • Immunology
  • Genetics
  • Infectious Diseases

Background:

  • Advances in genetics have led to the discovery of numerous inborn errors of immune function.
  • These genetic defects often result in increased susceptibility to fungal infections.

Purpose of the Study:

  • To enhance understanding of the cellular and molecular mechanisms underlying antifungal immune responses.
  • To identify novel molecules and signaling pathways critical for host defense against fungi.

Main Methods:

  • Characterization of single-gene defects associated with fungal disease susceptibility.
  • Analysis of patients with various fungal infections (yeasts, molds, dimorphic fungi).

Main Results:

  • Discovery of novel genetic factors influencing antifungal immunity.
  • Unmasking of critical molecular pathways in mucosal and systemic antifungal defense.

Conclusions:

  • Inborn errors of immune function provide unique insights into antifungal host defense.
  • These findings lay the groundwork for developing novel immune-based therapeutic strategies for fungal infections.

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