Invasive fungal diseases are major complications associated with the treatment of hematologic malignancies. The integration of host-derived biomarkers into clinical processes to predict the risk and progression of fungal disease is a promising approach in immunocompromised patients. Recent insights into human antifungal immunity have highlighted the remarkable influence of host genetics in modulating susceptibility to infection. In this chapter, we describe protocols to examine human genetic variation and to assess its functional consequences using the pattern recognition receptor PTX3 as an example.
Keywords: Antifungal immunity; Host biomarkers; Immunocompromised patients; Invasive fungal disease; Long pentraxin 3 (PTX3); Personalized medicine; Risk stratification; Single nucleotide polymorphism (SNP).