Ospite - patogeno - Gruppo di Ricerca

Our research group is devoted to the study of inborn errors of immunity in early-life. We aim to understand why some newborns and infants are uniquely susceptible to life-threatening bacterial, viral or fungal infection.
Using state-of-the-art genomic technologies and immunological testing, including exome or genome sequencing, genome-wide association studies and screening for antibodies, we investigate the genetic and immunological mechanisms underlying the interindividual variability in the outcome of infection. We explore how genes and the immune system operate at the population and the individual levels, and how this translates in the individual resistance or vulnerability to specific microorganisms.
With a primary focus on the maternal-fetal unit and early post-natal life, we also study infections typically occurring in older age groups. Our ultimate goal is the identification of individuals at risk for severe infection or immune disorders, and the prevention of currently unpredictable, potentially fatal conditions. 

• Gervais A., Rovida F., Avanzini M.A., Croce S., Marchal A., Lin S.C., Ferrari A., Thorball C.W., Constant O., Le Voyer T., Philippot Q., Rosain J., Angelini M., Pérez Lorenzo M., Bizien L., Achille C., Trespidi F., Burdino E., Cassaniti I., Lilleri D., Fornara C., Sammartino J.C., Cereda D., Marrocu C., Piralla A., Valsecchi C., Ricagno S., Cogo P., Neth O., Marín-Cruz I., Pacenti M., Sinigaglia A., Trevisan M., Volpe A., Marzollo A., Conti F., Lazzarotto T., Pession A., Viale P., Fellay J., Ghirardello S., Aubart M., Ghisetti V., Aiuti A., Jouanguy E., Bastard P., Percivalle E., Baldanti F., Puel A., MacDonald M.R., Rice C.M., Rossini G., Murray K.O., Simonin Y., Nagy A., Barzon L., Abel L., Diamond M.S., Cobat A.*, Zhang S.Y.*, Casanova J.L.*, Borghesi A*. Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients. Journal of Experimental Medicine, 2023;
• Borsani O., Bastard P., Rosain J., Gervais A., Sant'Antonio E., Vanni D., Casetti I.C., Pietra D., Trotti C., Catricalà S., Ferretti V.V., Malcovati L., Arcaini L., Casanova J.L., Borghesi A.*, Rumi E*. Autoantibodies against type I IFNs in patients with Ph-negative myeloproliferative neoplasms. Blood, 2022;
• Thorball C.W., Fellay J., Borghesi A. Immunological lessons from genome-wide association studies of infections. Current Opinion in Immunology, 2021;
• Borghesi A., Stronati M., Fellay J. Neonatal Group B Streptococcal disease in otherwise healthy infants: failure of specific neonatal immune responses. Frontiers in Immunology, 2017;
• Borghesi A., Mencarelli M.A., Memo L., Ferrero G.B., Bartuli A., Genuardi N., Stronati M., Villani A, Renieri A., Corsello G. Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant. Italian Journal of Pediatrics, 2017.

• Platform to systematically enroll and collect samples from selected patients 
• Exome and  genome sequencing data processing and analysis 
• Genome-wide genotyping data processing and GWAS 
• Screening for auto-Abs 

• Human genomics of group B streptococcal colonization and infection (RC2019) 
• uman genomics of group B streptococcal serology in pregnancy (5X1000) 
• Genomica umana della colonizzazione delle donne gravide da parte di Streptococco di gruppo B (Fondazione UniCredit) 
• Anti-interferon type I auto-antibodies and inborn errors of immunity in patients with life-threatening viral infection (RC2022)