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Review
. 2023 Jan;73(1):1-11.
doi: 10.1111/pin.13284. Epub 2022 Nov 7.

Immune repertoire profiling for disease pathobiology

Hiroto Katoh  1 , Daisuke Komura  1 , Genta Furuya  1 , Shumpei Ishikawa  1
Affiliations
Review

Immune repertoire profiling for disease pathobiology

Hiroto Katoh et al. Pathol Int. 2023 Jan.

Abstract

Lymphocytes consist of highly heterogeneous populations, each expressing a specific cell surface receptor corresponding to a particular antigen. Lymphocytes are both the cause and regulator of various diseases, including autoimmune/allergic diseases, lifestyle diseases, neurodegenerative diseases, and cancers. Recently, immune repertoire sequencing has attracted much attention because it helps obtain global profiles of the immune receptor sequences of infiltrating T and B cells in specimens. Immune repertoire sequencing not only helps deepen our understanding of the molecular mechanisms of immune-related pathology but also assists in discovering novel therapeutic modalities for diseases, thereby shedding colorful light on otherwise tiny monotonous cells when observed under a microscope. In this review article, we introduce and detail the background and methodology of immune repertoire sequencing and summarize recent scientific achievements in association with human diseases. Future perspectives on this genetic technique in the field of histopathological research will also be discussed.

Keywords: adaptive immunity; immune repertoire sequencing; immunoglobulin repertoire.

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Conflict of interest statement

None declared.

Figures

Figure 1
Figure 1
A schematic summary of the immune receptor repertoire sequencing and its downstream analysis. The left upper panel represents schematic genetic structures and the process of somatic recombination of the immunoglobulin heavy and light chain gene loci. Unique combinations of the V/(D)/J segments are selected and recombined in individual lymphocytes, with deletions/insertions of mostly random nucleotides between the V/(D)/J junctions (black boxes). The middle panels show the representative methods for the immune receptor repertoire sequencing using NGS or publicly available data sets. The bottom panels represent the possible downstream investigations using the repertoire sequencing data. By combining histopathological examinations of the distributions of the disease‐related B and T cells and specific antigens, an in‐depth understanding of disease pathology will be achieved. CDR3, complementarity determining region 3; RNA‐ISH, RNA in situ hybridization; IHC, immunohistochemistry; CAR‐T, chimeric antigen receptor T cell; and COVID‐19, coronavirus disease 2019. For more details, refer to Janeway's Immunobiology (9th edition, 2016). This figure was created with BioRender.com.
See this image and copyright information in PMC

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