Dr Antoine Guerin

Dr. Antoine Guérin is a Research Officer specialised in Inborn Errors of Immunity (IEI).

He completed his PhD under the supervision of Professor Jean-Laurent Casanova, a world leader in IEI. During his doctoral studies, Dr. Guérin focused on identifying and characterizing rare monogenic defects underlying immunodeficiencies. His work notably uncovered the first evidence that Whipple's disease - a rare condition associated with actinobacterial infection - is driven by a genetic defect (specifically IRF4 loss-of-function). He also contributed to the first identification of biallelic mutations in the IFNG gene as a cause of Mendelian Susceptibility to Mycobacterial Disease.

Following his PhD, Dr. Guérin joined the Garvan Institute of Medical Research to undertake postdoctoral training under the mentorship of Professors Stuart Tangye and Cindy Ma. There, he developed specialized expertise in human T cell biology, leading to the characterization of inherited CD4 deficiency as the second known genetic cause of Whipple's disease. To date, Dr. Guérin has contributed to the discovery of more than 10 novel genetic etiologies (including mutation in ZNF341, IFNGR2, STAT3, GATA2, STAT5B, IRF1, IFNAR1, FLT3LG genes).

Currently, Dr. Guérin’s research pioneers the use of single-cell transcriptomics to map functional defects in T cells. His work aims to establish a functional reference atlas that bridges the gap between genomic discovery and clinical care. By leveraging rare diseases as a high-resolution lens, he seeks to not only improve difficult diagnostic but also uncover fundamental immune mechanisms relevant to common pathologies like cancer and inflammatory bowel disease, ultimately guiding the development of targeted precision therapies.