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TitleHost genetic signatures of susceptibility to fungal disease
Author(s)Campos, Cláudia F.
Veerdonk, Frank L. van de
Gonçalves, Samuel Martins
Cunha, Cristina
Netea, Mihai G
Carvalho, Agostinho
Fungal recognition
Innate immunity
Pattern recognition receptor
Personalized medicine
Single nucleotide polymorphism (SNP)
Issue date2019
JournalCurrent Topics in Microbiology and Immunology
Abstract(s)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.
TypeBook part
AccessEmbargoed access (1 Year)
Appears in Collections:ICVS - Livros e Capítulos de Livros

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