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• W2529004588 abstract "Purpose of review This review gives an overview of the systems-immunology single-cell proteomic and transcriptomic approaches that can be applied to study primary immunodeficiency. It also introduces recent advances in multiparameter tissue imaging, which allows extensive immune phenotyping in disease-affected tissue. Recent findings Mass cytometry is a variation of flow cytometry that uses rare earth metal isotopes instead of fluorophores as tags bound to antibodies, allowing simultaneous measurement of over 40 parameters per single-cell. Mass cytomety enables comprehensive single-cell immunophenotyping and functional assessments, capturing the complexity of the immune system, and the molecularly heterogeneous consequences of primary immunodeficiency defects. Protein epitopes and transcripts can be simultaneously detected allowing immunophenotype and gene expression evaluation in mixed cell populations. Multiplexed epitope imaging has the potential to provide extensive phenotypic characterization at the subcellular level, in the context of 3D tissue microenvironment. Summary Mass cytometry and multiplexed epitope imaging can complement genetic methods in diagnosis and study of the pathogenesis of primary immunodeficiencies. The ability to understand the effect of a specific defect across multiple immune cell types and pathways, and in affected tissues, may provide new insight into tissue-specific disease pathogenesis and evaluate effects of therapeutic interventions." @default.
• W2529004588 created "2016-10-14" @default.
• W2529004588 creator A5016960321 @default.
• W2529004588 creator A5022808914 @default.
• W2529004588 date "2016-12-01" @default.
• W2529004588 modified "2023-10-14" @default.
• W2529004588 title "Novel tools for primary immunodeficiency diagnosis: making a case for deep profiling" @default.
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• W2529004588 doi "https://doi.org/10.1097/aci.0000000000000319" @default.
• W2529004588 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27749361" @default.
• W2529004588 hasPublicationYear "2016" @default.
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