Poster Presentation 47th Lorne Genome Conference 2026

A single-cell multi-omic atlas of human primary immunodeficiencies identified cell type defects associated with poor vaccination responses (133350)

Davide Vespasiani 1 , James Lancaster 1 , Annelise Quig 1 , Amanda Jackson 2 , Susanne Schultz 2 , Sylvia Tsang 2 , Kirsten Deckert 3 , Erin Lucas 1 , Mai Margetts 1 , Miles Horton 1 , Samantha Chan 1 2 , Julian Bosco 3 , Josh Chatelier 2 3 , Charlotte Slade 1 2 , Vanessa Bryant 1 , Celina Jin 1 2 , Hamish King 1
  1. The Walter and Eliza Hall Institute, Parkville, VIC, Australia
  2. Department of Clinical Immunology and Allergy, Royal Melbourne Hospital , Melbourne, VIC, Australia
  3. Department of Allergy, Immunology and Respiratory Medicine, Alfred Hospital, Melbourne, VIC, Australia

 

Specific antibody deficiency (SAD) and common variable immunodeficiency (CVID) are two heterogeneous groups of inborn immunodeficiencies characterised by recurrent infections and reduced antibody responses to vaccination[1,2]. While immune profiling of CVID revealed substantial defects in the frequency of different B cell subsets[3], potentially explaining their increased susceptibility to infections, SAD is a poorly characterised disorder. To identify shared and/or unique immune differences between SAD and CVID and to test whether these differences might be associated with responses to vaccination, we have generated a single-cell multi-omic atlas of peripheral blood-derived mononuclear cells (PBMCs) from a cohort of healthy controls (n=10), individuals with CVID (n=10) and individuals with SAD (n=10) before and after vaccination with a typhoid polysaccharide antigen. We have detected widespread significant differences in cell type abundance at baseline in both CVID and SAD compared to healthy controls. For example, we identified a unique enrichment of cytotoxic T cells in SAD and, similarly to CVID, a depletion of a population of CD14+ monocytes associated with responses to lipopolysaccharide. We then compared the molecular and cellular differences upon vaccination across cohorts and identified signatures of successful vaccination responses within the B cell compartment only of healthy individuals. In particular, we found a significantly higher expression post-vaccination of NF-kB related genes in healthy naïve B cells as well as a significant enrichment of a population of CD95switched memory B cells carrying a gene expression signature associated with active proliferation in the blood. In summary, we show that while SAD might represent a distinct disorder, individuals share similar defects as those with CVID for CD14+ monocyte and memory B cells which would explain their impaired responses to polysaccharide antigens.

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