
Antoine Guerin
Dr. Antoine Guérin is a Research Officer specializing in the human genetics of infectious diseases. He completed his PhD under the supervision of Professor Jean-Laurent Casanova, a world leader in Inborn Errors of Immunity (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.
Selected publications
See all publications- 2025Science Translational Medicine10.1126/scitranslmed.adp6812
Expanded T cell clones with lymphoma driver somatic mutations accumulate in refractory celiac disease.
- 2025Clinical and Experimental Immunology10.1093/cei/uxaf005
Functional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF syndrome and reveals broad immune cell defects.
- 2024Journal of Clinical Immunology10.1007/s10875-024-01801-x
Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
- 2024Journal of Clinical Immunology10.1007/s10875-024-01774-x
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries.
- 2023Clinical and Experimental Immunology10.1093/cei/uxad007
The ups and downs of STAT3 function: too much, too little and human immune dysregulation.
