title: Pharmacogenetics and beyond: variability of voriconazole plasma levels in a patient with primary immunodeficiency.
abstract: We report the case of a patient highly susceptible to invasive aspergillosis who received treatment with voriconazole (VRC). As part of therapeutic drug monitoring, VRC plasma trough concentrations were measured, showing undetectable levels (<0.16 µg/ml). Genotyping showed a heterozygous profile CYP2C19*1/*17, known to be associated with an ultrarapid-metabolism phenotype, contributing to the very low systemic exposure observed. Therefore, in this situation, the use of VRC treatment could be associated with therapeutic failure.
authors.affiliation: Infectious Diseases Division, CHU Sainte-Justine - University of Montreal, Montreal, QC, Canada.
authors.forename: Julie
authors.initials: J
authors.lastname: Autmizguine
authors.forename: Maja
authors.initials: M
authors.lastname: Krajinovic
authors.forename: Julie
authors.initials: J
authors.lastname: Rousseau
authors.forename: Yves
authors.initials: Y
authors.lastname: Théorêt
authors.forename: Catherine
authors.initials: C
authors.lastname: Litalien
authors.forename: Christopher
authors.initials: C
authors.lastname: Marquis
authors.forename: Bruce
authors.initials: B
authors.lastname: Tapiéro
authors.forename: Philippe
authors.initials: P
authors.lastname: Ovetchkine
mesh_terms: D000328:Adult; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D001228:Aspergillosis / Q000139:chemically induced / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D065731:Cytochrome P-450 CYP2C19; D056726:Genetic Association Studies; D006105:Granulomatous Disease, Chronic / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008297:Male; D010597:Pharmacogenetics; D011743:Pyrimidines / Q000008:administration & dosage / Q000009:adverse effects / Q000097:blood; D014230:Triazoles / Q000008:administration & dosage / Q000009:adverse effects / Q000097:blood; D065819:Voriconazole
chemical_list: D011743:Pyrimidines; D014230:Triazoles; D001189:Aryl Hydrocarbon Hydroxylases; C045793:CYP2C19 protein, human; D065731:Cytochrome P-450 CYP2C19; D065819:Voriconazole