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Host Genetic Signatures of Susceptibility to Fungal Disease

  • Cláudia F. Campos
  • Frank L. van de Veerdonk
  • Samuel M. Gonçalves
  • Cristina Cunha
  • Mihai G. Netea
  • Agostinho Carvalho
Part of the Current Topics in Microbiology and Immunology book series


Our relative inability to predict the development of fungal disease and its clinical outcome raises fundamental questions about its actual pathogenesis. Several clinical risk factors are described to predispose to fungal disease, particularly in immunocompromised and severely ill patients. However, these alone do not entirely explain why, under comparable clinical conditions, only some patients develop infection. Recent clinical and epidemiological studies have reported an expanding number of monogenic defects and common polymorphisms associated with fungal disease. By directly implicating genetic variation in the functional regulation of immune mediators and interacting pathways, these studies have provided critical insights into the human immunobiology of fungal disease. Most of the common genetic defects reported were described or suggested to impair fungal recognition by the innate immune system. Here, we review common genetic variation in pattern recognition receptors and its impact on the immune response against the two major fungal pathogens Candida albicans and Aspergillus fumigatus. In addition, we discuss potential strategies and opportunities for the clinical translation of genetic information in the field of medical mycology. These approaches are expected to transfigure current clinical practice by unleashing an unprecedented ability to personalize prophylaxis, therapy and monitoring for fungal disease.


Single nucleotide polymorphism (SNP) Innate immunity Candida Aspergillus Fungal recognition Pattern recognition receptor Personalized medicine 



This work was supported by the Northern Portugal Regional Operational Programme (NORTE 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (FEDER) (NORTE-01-0145-FEDER-000013), the Fundação para a Ciência e Tecnologia (FCT) (IF/00735/2014 to AC, and SFRH/BPD/96176/2013 to CC), the Institut Mérieux (Mérieux Research Grant 2017 to CC), and the European Society of Clinical Microbiology and Infectious Diseases (ESCMID Research Grant 2017 to AC).


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Cláudia F. Campos
    • 1
    • 2
  • Frank L. van de Veerdonk
    • 3
  • Samuel M. Gonçalves
    • 1
    • 2
  • Cristina Cunha
    • 1
    • 2
  • Mihai G. Netea
    • 3
  • Agostinho Carvalho
    • 1
    • 2
  1. 1.Life and Health Sciences Research Institute (ICVS), School of MedicineUniversity of MinhoBragaPortugal
  2. 2.ICVS/3B’s—PT Government Associate LaboratoryBraga/GuimarãesPortugal
  3. 3.Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI)Radboudumc, NijmegenThe Netherlands

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