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Novel tools for primary immunodeficiency diagnosis: making a case for deep profiling.
Elena W Y Hsieh1, Joseph D Hernandez
1aDepartment of Immunology and Microbiology, University of Colorado Denver, School of Medicine bDepartment of Pediatrics, Division of Allergy and Immunology, University of Colorado Denver, School of Medicine and Children's Hospital Colorado, Aurora, Colorado cDepartment of Pediatrics, Division of Allergy, Immunology and Rheumatology, Stanford University, School of Medicine, Stanford, California, USA.
Systems-immunology approaches like mass cytometry and tissue imaging offer new ways to study primary immunodeficiency. These methods allow detailed analysis of immune cells and tissues, aiding diagnosis and understanding disease.
Area of Science:
- * Systems immunology
- * Single-cell omics
- * Immunophenotyping
Background:
- * Primary immunodeficiency (PID) involves defects in the immune system.
- * Understanding PID requires detailed analysis of immune cell function and interactions.
- * Traditional methods have limitations in capturing immune system complexity.
Purpose of the Study:
- * To review systems-immunology approaches for studying primary immunodeficiency.
- * To introduce advances in multiparameter tissue imaging for immune phenotyping.
- * To highlight the utility of single-cell proteomic and transcriptomic methods.
Main Methods:
- * Mass cytometry for high-parameter single-cell immunophenotyping and functional assessment.
- * Simultaneous detection of protein epitopes and transcripts in single cells.
- * Multiplexed epitope imaging for subcellular phenotypic characterization in 3D tissue microenvironments.
Main Results:
- * Mass cytometry enables comprehensive analysis of immune cell heterogeneity in PID.
- * Simultaneous proteomic and transcriptomic analysis reveals gene expression in mixed cell populations.
- * Multiplexed imaging provides detailed immune phenotyping within the tissue context.
Conclusions:
- * Mass cytometry and multiplexed imaging complement genetic diagnostics for PID.
- * These techniques offer insights into tissue-specific disease pathogenesis.
- * They can evaluate the effects of therapeutic interventions in PID.
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