My research focuses on the genetics of host susceptibility to paediatric infectious diseases in order to understand the host immune response, and to identify immunological biomarkers for disease diagnosis. Diseases of interest include tuberculosis, meningococcal disease and Kawasaki disease.
et al., 2020, Whole-exome sequencing for the identification of rare variants in primary immunodeficiency genes in children with sepsis - a prospective population-based cohort study., Clinical Infectious Diseases, ISSN:1058-4838
et al., 2019, Plasma lipid profiles discriminate bacterial from viral infection in febrile children, Scientific Reports, Vol:9, ISSN:2045-2322
et al., 2019, HLA-C variants associated with amino acid substitutions in the peptide binding groove influence susceptibility to Kawasaki disease, Human Immunology, Vol:80, ISSN:0198-8859, Pages:731-738
Sancho Shimizu V, A rare mutation in SPLUNC1 underlies meningococcal disease affecting bacterial adherence and invasion, Clinical Infectious Diseases, ISSN:1058-4838
et al., 2019, Biosynthetic homeostasis and resilience of the complement system in health and infectious disease, Ebiomedicine, Vol:45, ISSN:2352-3964, Pages:303-313